Canonical Allele Identifier: PA2828476037
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1180106
ClinVar RCV Id: RCV001537239
ClinVar Variation Id: 1308640
ClinVar RCV Id: RCV001754548 RCV003985515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Gln1479His
CA349034361
NM_001371247.1:c.4437G>C
CA349034362
NM_001371247.1:c.4437G>T