ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828386662
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2892840
ClinVar RCV Id:
RCV003646952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357068.1:p.Cys952Arg
CA5564895
NM_001370139.1:c.2854T>C