Allele Registry

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Canonical Allele Identifier: PA2827290849

Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1191017

ClinVar RCV Id: RCV001551937

ClinVar Variation Id: 1612229

ClinVar RCV Id: RCV002168476

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317189.1:p.Arg223Ser	CA385224724 NM_001330260.2:c.669G>C CA385224726 NM_001330260.2:c.669G>T