Allele Registry

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Canonical Allele Identifier: PA2827777466

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1438278

ClinVar RCV Id: RCV001957807 RCV003322907

ClinVar Variation Id: 2857930

ClinVar RCV Id: RCV003754843

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Phe1518Leu	CA349072365 NM_001353954.2:c.4554T>G CA349072366 NM_001353954.2:c.4554T>A CA349072371 NM_001353954.2:c.4552T>C