Canonical Allele Identifier: PA2580229525
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2053516
ClinVar RCV Id: RCV002922565
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Glu1998Lys
CA349063016
NM_001353948.2:c.5992G>A