The Human Gene Mutation Database (HGMD) collates data on germ-line mutations in nuclear genes associated with human inherited disease. It includes information on single base-pair substitutions in coding, regulatory and splicing-relevant regions; micro-deletions and micro-insertions; indels; triplet repeat expansions as well as gross deletions; insertions; duplications; and complex rearrangements. Each mutation entry is unique, and includes cDNA reference sequences for most genes, splice junction sequences, disease-associated and functional polymorphisms, as well as links to data present in publicly available online locus-specific mutation databases.

Missing Contact
Pattern for Local Unique Identifiers

Local identifiers in Human Gene Mutation Database should match this regular expression:

Example Local Unique Identifier
CALM1   Resolve
Pattern for CURIES

Compact URIs (CURIEs) constructed from Human Gene Mutation Database should match this regular expression:

Example CURIE
Metaregistry Human Gene Mutation Database

The metaregistry provides mappings between the Bioregistry and other registries. There are 5 mappings to external registries for this resource with 3 unique external prefixes.

Registry Name Registry Metaprefix External Prefix Curate
BioContext biocontext HGMD
EDAM EDAM Ontology logo edam 3265
Integbio Integbio logo integbio nbdc00097 logo miriam hgmd
N2T Name-to-Thing logo n2t hgmd

A provider turns a local unique identifiers from a resource into a URI. Many providers are also resolvable as URLs (i.e., they can be used in a web browser).

The local unique identifier CALM1 is used to demonstrate the providers available for Human Gene Mutation Database. A guide for curating additional providers can be found here.

Name Metaprefix URI
Human Gene Mutation Database hgmd
Bioregistry bioregistry miriam
Name-to-Thing n2t