Canonical Allele Identifier: PA2580229256
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2435670
ClinVar RCV Id: RCV003142757
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Glu725Asp
CA349065533
NM_001353948.2:c.2175A>T
CA349065536
NM_001353948.2:c.2175A>C