ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580350118
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2421432
ClinVar RCV Id:
RCV003113092
RCV004245917
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.Arg1495Cys
CA4729473
NM_006766.3:c.4483C>T