Canonical Allele Identifier: PA2826011569
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 453000
ClinVar RCV Id: RCV000524084 RCV001070318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159436.1:p.Arg187Trp
CA349075415
NM_001165964.3:c.559C>T