ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826797694
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211257
ClinVar RCV Id:
RCV000193227
RCV000493253
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278346.1:p.Gln1167Arg
CA206562
NM_001291417.2:c.3500A>G