ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580186509
Gene: KDM6A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278344.1:p.Thr580Ile
CA412787857
NM_001291415.2:c.1739C>T