Allele Registry

Canonical Allele Identifier: PA2826547948

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000429853

RCV000804807

ClinVar Variation:

390178

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258932.1:p.Arg493Cys	CA5326971 NM_001272003.2:c.1477C>T