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: PA261636

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44723

ClinVar RCV Id: RCV000037813 RCV001090238

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Ala40Glu	CA261635 NM_004004.6:c.119C>A