Canonical Allele Identifier: PA234870
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 167646
ClinVar RCV Id: RCV000471353 RCV000515440 RCV000710209 RCV002408682
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Arg580Gln
CA234868
NM_001165963.4:c.1739G>A