Canonical Allele Identifier: PA2827758096
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 951961
ClinVar RCV Id: RCV001223975
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Leu794Phe
CA349063651
NM_001353949.2:c.2382G>T
CA349063652
NM_001353949.2:c.2382G>C