Canonical Allele Identifier: PA107386
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68575
ClinVar RCV Id: RCV000059451 RCV000522680 RCV000636440 RCV004019070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asp194Asn
CA285033
NM_001165963.4:c.580G>A