Canonical Allele Identifier: PA658699404
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 496217
ClinVar RCV Id: RCV000589231 RCV001834858
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val95Ala
CA387461474
NM_004004.6:c.284T>C