Allele Registry

Canonical Allele Identifier: PA2826548263

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000032798

RCV000813544

ClinVar Variation:

39598

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258932.1:p.Tyr751His	CA343802 NM_001272003.2:c.2251T>C