Canonical Allele Identifier: PA2828475139
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 575887
ClinVar RCV Id: RCV000698229
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358176.1:p.Asp995Glu
CA349019565
NM_001371247.1:c.2985T>A
CA349019566
NM_001371247.1:c.2985T>G