ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826798288
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158691
ClinVar RCV Id:
RCV000146127
RCV000176888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278347.1:p.Arg1272Gln
CA172363
NM_001291418.2:c.3815G>A