Allele Registry

Canonical Allele Identifier: PA354184

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000209840

RCV000687849

ClinVar Variation:

224110

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Leu46Phe	CA354183 NM_020822.3:c.136C>T