ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580350129
Gene: KAT6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2417209
ClinVar RCV Id:
RCV003112037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006757.2:p.Val1545Met
CA371065212
NM_006766.3:c.4633G>A