Allele Registry

Canonical Allele Identifier: PA2826547890

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000371693

RCV003137877

ClinVar Variation:

280254

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258932.1:p.Arg429Ser	CA10603169 NM_001272003.2:c.1285C>A