Allele Registry

Canonical Allele Identifier: PA645408546

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000429853

RCV000804807

ClinVar Variation:

390178

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Arg538Cys	CA5326971 NM_020822.3:c.1612C>T