Canonical Allele Identifier: PA231487
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 130213
ClinVar RCV Id: RCV000189212 RCV000678841 RCV000733650 RCV001265406 RCV001080949 RCV002316316 RCV003155918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035232.1:p.Glu459Ala
CA231486
NM_001040142.2:c.1376A>C