Canonical Allele Identifier: PA2827754498
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 29883
ClinVar RCV Id: RCV000022764 RCV001379443
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Ala1669Glu
CA281748
NM_001353948.2:c.5006C>A