Canonical Allele Identifier: PA2828473399
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 282579
ClinVar RCV Id: RCV000509344 RCV001265283 RCV002317801 RCV003224250 RCV003985312 RCV001034485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Arg1918Cys
CA1940421
NM_001371246.1:c.5752C>T