Canonical Allele Identifier: PA134976
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44754
ClinVar RCV Id: RCV000037857 RCV000270707 RCV000505519 RCV000755275 RCV001109786 RCV001257148 RCV001291334 RCV002496603
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val153Ile
CA134975
NM_004004.6:c.457G>A