ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658676747
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_054878.5:p.Leu222Ile
CA2363732
NM_014159.7:c.664C>A