ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA318224
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207093
ClinVar RCV Id:
RCV000189248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035232.1:p.Ala240Phe
CA318223
NM_001040142.2:c.718_719delinsTT