ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826395848
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2231439
ClinVar RCV Id:
RCV002708066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243397.1:p.Glu1168Lys
CA5564951
NM_001256468.2:c.3502G>A