ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827491051
Gene: SETD2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
367600
ClinVar RCV:
RCV000426759
RCV000779643
RCV000853394
RCV001258009
RCV001267453
RCV001267684
RCV002467447
RCV004554776
ClinVar Variation:
388568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Arg1696Trp
CA16604601
NM_001349370.3:c.5086C>T