Allele Registry

Canonical Allele Identifier: PA2826130590

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV001986594

RCV003883736

ClinVar Variation:

1493587

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171455.1:p.Ala1593Thr	CA236327392 NM_001177984.2:c.4777G>A