Canonical Allele Identifier: PA2827781366
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 972887
ClinVar RCV Id: RCV001249174 RCV003753168 RCV002508953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Asn115Lys
CA349076938
NM_001353957.2:c.345T>G
CA349076939
NM_001353957.2:c.345T>A