ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826798217
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
545087
ClinVar RCV Id:
RCV000656306
RCV000690858
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278347.1:p.Cys1074Tyr
CA412804999
NM_001291418.2:c.3221G>A