Canonical Allele Identifier: PA658831303
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551229
ClinVar RCV Id: RCV000666230 RCV001662735 RCV001805787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly12Asp
CA6904330
NM_004004.6:c.35G>A