Allele Registry

Canonical Allele Identifier: PA2827291609

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000122729

RCV000189267

RCV000624041

RCV000803456

RCV001249685

RCV003224864

RCV003488395

RCV003992189

ClinVar Variation:

135651

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg850Gln	CA163107 NM_001330260.2:c.2549G>A