ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828381183
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2991365
ClinVar RCV Id:
RCV003850028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357061.1:p.Ala1057Val
CA377296438
NM_001370132.1:c.3170C>T