Canonical Allele Identifier: PA2827768099
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68571
ClinVar RCV Id: RCV000059446 RCV000189000 RCV001207693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Ala1772Val
CA285024
NM_001353950.2:c.5315C>T