Canonical Allele Identifier: PA2827778585
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206931
ClinVar RCV Id: RCV000189075
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Leu247Val
CA317763
NM_001353955.2:c.739C>G