Canonical Allele Identifier: PA134998
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36279
ClinVar RCV Id: RCV000029942 RCV000037872 RCV000576408 RCV001110666 RCV001110665 RCV001257145 RCV001510693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val27Ile
CA134997
NM_004004.6:c.79G>A