ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891848090
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
588016
ClinVar RCV Id:
RCV001692268
RCV002312741
RCV003965475
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.Gln1650dup
CA4729401
NM_006766.3:c.4949_4951dup