Canonical Allele Identifier: PA2826547931
Gene: KCNT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2938444
ClinVar RCV Id: RCV003799218

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr
CA860988055
NM_001272003.2:c.1433_1450dup