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: PA341597

Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21080

ClinVar RCV Id: RCV000020170 RCV000789951

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091111.1:p.Ser49Pro	CA341595 NM_001097642.3:c.145T>C