Canonical Allele Identifier: PA2828475547
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 521077
ClinVar RCV Id: RCV000623688 RCV001265506 RCV002531892
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Ala1245Val
CA1940167
NM_001371247.1:c.3734C>T