ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828382995
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
260238
ClinVar RCV Id:
RCV000246745
RCV001033983
RCV001529580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357064.1:p.Glu323dup
CA5564784
NM_001370135.1:c.967_969dup