Canonical Allele Identifier: PA1139740165
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 951961
ClinVar RCV Id: RCV001223975
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Leu805Phe
CA349063651
NM_001353948.2:c.2415G>T
CA349063652
NM_001353948.2:c.2415G>C