ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030143
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542232
ClinVar RCV Id:
RCV000652628
RCV004533419
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Ala6Thr
CA73812492
NM_001349370.3:c.16G>A