Canonical Allele Identifier: PA2828470281
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 130224
ClinVar RCV Id: RCV000118260 RCV000379925 RCV000860054 RCV001640094 RCV002312496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001358175.1:p.Arg19Lys
CA155062
NM_001371246.1:c.56G>A