Canonical Allele Identifier: PA2827761749
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206867
ClinVar RCV Id: RCV000189005 RCV000714534 RCV000714535 RCV003128153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ala1823Val
CA317613
NM_001353949.2:c.5468C>T