ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827490114
Gene: SETD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000526963
ClinVar Variation:
475495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Leu493Arg
CA2363659
NM_001349370.3:c.1478T>G