Allele Registry

Canonical Allele Identifier: PA285035

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79467

ClinVar RCV:

RCV000059451

RCV000522680

RCV000636440

RCV004019070

ClinVar Variation:

68575

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Asp194Asn	CA285033 NM_006920.6:c.580G>A