ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827490666
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000548155
RCV001707740
RCV001821637
ClinVar Variation:
475513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.His1118Tyr
CA2363373
NM_001349370.3:c.3352C>T