Allele Registry

Canonical Allele Identifier: PA645449080

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000228705

RCV000622388

ClinVar Variation:

240884

HGVS (amino-acid)	Matching Registered Transcripts
NP_055006.1:p.Gln417Pro	CA10583047 NM_014191.4:c.1250A>C