ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827490160
Gene: SETD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135219
ClinVar RCV Id:
RCV000122031
RCV000547348
RCV003436936
RCV004530037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336299.1:p.Thr548Lys
CA162050
NM_001349370.3:c.1643C>A