Canonical Allele Identifier: PA341611
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21086
ClinVar RCV Id: RCV000020176 RCV000789812 RCV000654837 RCV001815168 RCV002345250
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001091111.1:p.Glu186Lys
CA341609
NM_001097642.3:c.556G>A