Allele Registry

Canonical Allele Identifier: PA285041

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059453

RCV002513781

ClinVar Variation:

68577

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Thr217Lys	CA285039 NM_006920.6:c.650C>A