ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828381035
Gene: KAT6B
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003030786
ClinVar Variation:
2098120
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357061.1:p.Glu750Lys
CA5564782
NM_001370132.1:c.2248G>A