Canonical Allele Identifier: PA2827781487
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461284
ClinVar RCV Id: RCV000557448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Asp194Tyr
CA349075328
NM_001353957.2:c.580G>T