Allele Registry

Canonical Allele Identifier: PA2826548767

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000431889

RCV001083596

RCV002270255

RCV002270256

RCV003932561

ClinVar Variation:

378039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258932.1:p.Glu1208Lys	CA5328027 NM_001272003.2:c.3622G>A