Canonical Allele Identifier: PA645385437
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372771
ClinVar RCV Id: RCV000412967 RCV000666314
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala49Val
CA16042821
NM_004004.6:c.146C>T