Canonical Allele Identifier: PA891852343
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 585327
ClinVar RCV Id: RCV000710338

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Cys218Tyr
CA6904216
NM_004004.6:c.653G>A