ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828383134
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1385810
ClinVar RCV Id:
RCV001889000
ClinVar Variation Id:
2186009
ClinVar RCV Id:
RCV002619940
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357064.1:p.Glu582_Glu587dup
CA668390792
NM_001370135.1:c.1745_1762dup