ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828383109
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1984553
ClinVar RCV Id:
RCV002756847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357064.1:p.Glu529del
CA5564923
NM_001370135.1:c.1586_1588del