ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828385819
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2170843
ClinVar RCV Id:
RCV003088707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357067.1:p.Arg1071His
CA5564898
NM_001370138.1:c.3212G>A