Allele Registry

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Canonical Allele Identifier: PA2827765369

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 449377

ClinVar RCV Id: RCV000522963 RCV001315158

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Asp995Glu	CA1943019 NM_001353950.2:c.2985T>G CA349060373 NM_001353950.2:c.2985T>A