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: PA2580282991

Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137452

ClinVar RCV Id: RCV003062560

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Cys202Arg	CA387460816 NM_004004.6:c.604T>C