ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827489868
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475534
ClinVar RCV Id:
RCV000526824
RCV003224336
RCV004543235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Leu178Ile
CA2363732
NM_001349370.3:c.532C>A