ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826796924
Gene: KDM6A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278345.1:p.Pro693Ser
CA10392483
NM_001291416.2:c.2077C>T