Canonical Allele Identifier: PA2827772227
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 93661
ClinVar RCV Id: RCV000764282 RCV000723619 RCV001080157 RCV001281471 RCV002313760 RCV004542757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Pro1973His
CA221611
NM_001353951.2:c.5918C>A