ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828473880
Gene: SCN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
207088
ClinVar RCV Id:
RCV000189243
RCV001390241
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001358176.1:p.Leu216Trp
CA318208
NM_001371247.1:c.647T>G