Canonical Allele Identifier: PA2825360215
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 372973
ClinVar RCV Id: RCV000414096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035233.1:p.Trp1594Arg
CA16042354
NM_001040143.2:c.4780T>C
CA349036828
NM_001040143.2:c.4780T>A