Canonical Allele Identifier: PA2827781742
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1064582
ClinVar RCV Id: RCV001374630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Pro346Leu
CA349071447
NM_001353957.2:c.1037C>T