Canonical Allele Identifier: PA2828475553
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2574945
ClinVar RCV Id: RCV003319842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Ile1252Leu
CA349027950
NM_001371247.1:c.3754A>C
CA349027951
NM_001371247.1:c.3754A>T