Canonical Allele Identifier: PA176159
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 163514
ClinVar RCV Id: RCV000150729 RCV000762903 RCV001785477
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Arg127Cys
CA176158
NM_004004.6:c.379C>T