Canonical Allele Identifier: PA338639
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216292
ClinVar RCV Id: RCV000199414 RCV000235965
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Val38Gly
CA338636
NM_001097642.3:c.113T>G