ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827490639
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521888
ClinVar RCV Id:
RCV000623529
RCV000652612
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Ala1080Val
CA2363394
NM_001349370.3:c.3239C>T