ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828390025
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376923
ClinVar RCV Id:
RCV000436722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357072.1:p.Ser948Gly
CA16603211
NM_001370143.1:c.2842A>G