Canonical Allele Identifier: PA2827777025
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206811
ClinVar RCV Id: RCV000188932 RCV001375621 RCV002247609
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Trp1272Arg
CA317404
NM_001353954.2:c.3814T>C
CA349053995
NM_001353954.2:c.3814T>A