ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829966753
Gene: KDM6A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066963.2:p.Pro527Arg
CA329046382
NM_021140.4:c.1580C>G