Allele Registry

Canonical Allele Identifier: PA2827291865

Gene: SCN8A HGNC NCBI

ClinVar RCV:

RCV000636346

RCV002252185

ClinVar Variation:

530470

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg1055Trp	CA6571554 NM_001330260.2:c.3163C>T