Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA915971727

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 637589

ClinVar RCV Id: RCV000789842

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.His94Asp	CA413501755 NM_001097642.3:c.280C>G