ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499254512
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1216063
ClinVar RCV Id:
RCV001593726
RCV002573343
RCV004039504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357071.1:p.Pro991Ala
CA5564916
NM_001370142.1:c.2971C>G