ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580350117
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2152717
ClinVar RCV Id:
RCV003085298
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.Arg1495His
CA4729471
NM_006766.3:c.4484G>A