ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828474259
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207056
ClinVar RCV Id:
RCV000189210
RCV001379442
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Glu430Gly
CA318120
NM_001371247.1:c.1289A>G