Canonical Allele Identifier: PA2827790284
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68601
ClinVar RCV Id: RCV000059478
ClinVar Variation Id: 451108
ClinVar RCV Id: RCV000519717 RCV003992313
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.His125Gln
CA285090
NM_001353961.2:c.375C>G
CA349061306
NM_001353961.2:c.375C>A