Canonical Allele Identifier: PA113417
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 550961
ClinVar RCV Id: RCV000665870 RCV001218684 RCV001779042
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val178Ala
CA6904243
NM_004004.6:c.533T>C