Canonical Allele Identifier: PA2827789931
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421612
ClinVar RCV Id: RCV000481884 RCV001043102 RCV002350068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg1832Gln
CA16617277
NM_001353960.2:c.5495G>A