ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828382580
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1714939
ClinVar RCV Id:
RCV002299265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357063.1:p.Thr763Ala
CA377296825
NM_001370134.1:c.2287A>G