Canonical Allele Identifier: PA2827763379
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2710795
ClinVar RCV Id: RCV003590481
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Glu347Lys
CA59798785
NM_001353950.2:c.1039G>A