Canonical Allele Identifier: PA130394
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39595
ClinVar RCV Id: RCV000032795 RCV000414268 RCV000546032 RCV000624507 RCV001253027 RCV002274887 RCV003390714 RCV004018702
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065873.2:p.Arg474His
CA130393
NM_020822.3:c.1421G>A