Canonical Allele Identifier: PA285146
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68622
ClinVar RCV Id: RCV000059499
ClinVar Variation Id: 577345
ClinVar RCV Id: RCV000700072 RCV003140110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Phe1252Leu
CA285144
NM_006920.6:c.3756C>G
CA349054344
NM_006920.6:c.3756C>A
CA349054355
NM_006920.6:c.3754T>C