ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658807665
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_054878.5:p.Ala50Thr
CA73812492
NM_014159.7:c.148G>A