Canonical Allele Identifier: PA273922
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188758
ClinVar RCV Id: RCV000169075 RCV000614720 RCV000724651 RCV001001448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg32Cys
CA273921
NM_004004.6:c.94C>T