Allele Registry

Canonical Allele Identifier: PA645449125

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000500414

RCV001857161

RCV002259344

ClinVar Variation:

436671

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Ser627Leu	CA385229785 NM_014191.4:c.1880C>T