Canonical Allele Identifier: PA094350
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 29888
ClinVar RCV Id: RCV000022769 RCV000118251 RCV000189193 RCV000416960 RCV001035869 RCV001200935 RCV001265272 RCV003985263 RCV003155911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035232.1:p.Ala263Val
CA128711
NM_001040142.2:c.788C>T