Canonical Allele Identifier: PA915999377
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 627447
ClinVar RCV Id: RCV000770823 RCV001040588 RCV001809798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys202Ter
CA913191089
NM_004004.6:c.560_605dup