Canonical Allele Identifier: PA658831338
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 553209
ClinVar RCV Id: RCV000668607 RCV002531202
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ser139Cys
CA387461195
NM_004004.6:c.415A>T