ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827490319
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135220
ClinVar RCV Id:
RCV000122032
RCV000428574
RCV001087250
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Pro707Thr
CA162053
NM_001349370.3:c.2119C>A