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: PA645431202

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 245904

ClinVar RCV Id: RCV000236069 RCV000698707 RCV000789056

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.His126Tyr	CA10584639 NM_001097642.3:c.376C>T