Canonical Allele Identifier: PA2573276131
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1517176
ClinVar RCV Id: RCV002041023
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066287.2:p.Phe1179Leu
CA349025778
NM_021007.3:c.3535T>C
CA349025785
NM_021007.3:c.3537C>A
CA349025786
NM_021007.3:c.3537C>G