ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828384931
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1311604
ClinVar RCV Id:
RCV001752587
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357066.1:p.Leu1318Val
CA377294776
NM_001370137.1:c.3952C>G