Canonical Allele Identifier: PA2828472131
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1016869
ClinVar RCV Id: RCV001315940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Asp1246Glu
CA349027817
NM_001371246.1:c.3738C>A
CA349027828
NM_001371246.1:c.3738C>G