Allele Registry

Canonical Allele Identifier: PA2827780540

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79445

ClinVar RCV:

RCV000059427

RCV000188978

RCV000794558

RCV001031013

RCV001253159

RCV002265592

ClinVar Variation:

68553

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Arg1584Cys	CA145250 NM_001353955.2:c.4750C>T