ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741874262
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2908466
ClinVar RCV Id:
RCV003647074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357061.1:p.Pro989Leu
CA5564939
NM_001370132.1:c.2966C>T