Canonical Allele Identifier: PA285026
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68571
ClinVar RCV Id: RCV000059446 RCV000189000 RCV001207693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala1772Val
CA285024
NM_006920.6:c.5315C>T