Canonical Allele Identifier: PA2827781429
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206928
ClinVar RCV Id: RCV000189072 RCV000636394 RCV001252613
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Glu158Gln
CA317752
NM_001353957.2:c.472G>C