Allele Registry

Canonical Allele Identifier: PA130392

Gene: KCNT1 HGNC NCBI

ClinVar RCV:

RCV000032794

RCV000494477

RCV000791441

ClinVar Variation:

39594

HGVS (amino-acid)	Matching Registered Transcripts
NP_065873.2:p.Ala934Thr	CA130391 NM_020822.3:c.2800G>A