Canonical Allele Identifier: PA357245
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225222

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly200Arg
CA357244
NM_004004.6:c.598G>A
CA387460827
NM_004004.6:c.598G>C