Canonical Allele Identifier: PA2828476368
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 383825
ClinVar RCV Id: RCV000432281 RCV002318437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Trp1594Cys
CA16603919
NM_001371247.1:c.4782G>C
CA349036836
NM_001371247.1:c.4782G>T