Canonical Allele Identifier: PA645385462
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 253134
ClinVar RCV Id: RCV000239514 RCV001000821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Tyr65His
CA10586212
NM_004004.6:c.193T>C