Canonical Allele Identifier: PA274136
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 188925
ClinVar RCV Id: RCV000169292

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Ala40Gly
CA274135
NM_004004.6:c.119C>G