Canonical Allele Identifier: PA2573083491
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1334162
ClinVar RCV Id: RCV001810543 RCV002541486 RCV003235601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Glu42Asp
CA6904314
NM_004004.6:c.126G>T
CA387461886
NM_004004.6:c.126G>C