Canonical Allele Identifier: PA2827785277
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_001340887.1:p.Leu777Phe
CA349063651
NM_001353958.2:c.2331G>T
CA349063652
NM_001353958.2:c.2331G>C