Allele Registry

Canonical Allele Identifier: PA2827292532

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000485665

RCV004555864

ClinVar Variation:

421047

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg1638His	CA16619564 NM_001330260.2:c.4913G>A