Canonical Allele Identifier: PA2827790221
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 452271
ClinVar RCV Id: RCV000559503 RCV001696832 RCV001253601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Ala75Thr
CA349061639
NM_001353961.2:c.223G>A