Allele Registry

Canonical Allele Identifier: PA285050

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059456

RCV003588569

ClinVar Variation:

68580

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ala239Thr	CA285048 NM_006920.6:c.715G>A