Canonical Allele Identifier: PA303231
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189893
ClinVar RCV Id: RCV000180845
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Arg1927Thr
CA303228
NM_001165963.4:c.5780G>C