Canonical Allele Identifier: PA097387
Gene: GJB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 246098
ClinVar RCV Id: RCV000236009 RCV000688999 RCV000789850 RCV003388834
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000157.1:p.Arg215Trp
CA10584644
NM_000166.6:c.643C>T