Canonical Allele Identifier: PA172229
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21387
ClinVar RCV Id: RCV000020570 RCV000211720 RCV000146020 RCV000412324 RCV000711351 RCV001257034 RCV002286405 RCV002504816
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Gly12Val
CA172228
NM_004004.6:c.35G>T