Canonical Allele Identifier: PA2827771345
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189843
ClinVar RCV Id: RCV000180797 RCV002517630
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Pro1440Thr
CA303087
NM_001353951.2:c.4318C>A