Canonical Allele Identifier: PA2827768166
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1383663
ClinVar RCV Id: RCV001892771 RCV002077341 RCV002552875 RCV003330101
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Glu1791Lys
CA349067770
NM_001353950.2:c.5371G>A