Canonical Allele Identifier: PA2827751131
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1014248
ClinVar RCV Id: RCV001312958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val645Leu
CA1943228
NM_001353948.2:c.1933G>T
CA349067260
NM_001353948.2:c.1933G>C