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: PA2499265349

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064641

ClinVar RCV Id: RCV001374649 RCV003232335 RCV003558824

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Cys169Arg	CA6904253 NM_004004.6:c.505T>C