ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580350113
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2053073
ClinVar RCV Id:
RCV002937935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.His1475Arg
CA4729491
NM_006766.3:c.4424A>G