Canonical Allele Identifier: PA2499265351
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1298565
ClinVar RCV Id: RCV001726895

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Val198Met
CA387460837
NM_004004.6:c.592G>A