Canonical Allele Identifier: PA172231
Gene: GJB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 44742
ClinVar RCV Id: RCV000037844 RCV000146021 RCV000211721 RCV000412394 RCV000678882 RCV000757331 RCV000999926 RCV004018850
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003995.2:p.Lys122Ile
CA172230
NM_004004.6:c.365A>T