ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828381865
Gene: KAT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2208667
ClinVar RCV Id:
RCV002682176
RCV003530275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357062.1:p.Gln683Arg
CA377291568
NM_001370133.1:c.2048A>G