Canonical Allele Identifier: PA916017781
Gene: KDM6A HGNC NCBI
ClinVar RCV:
RCV000449529
ClinVar Variation:
397533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278350.1:p.Leu904Phe
CA16609406
NM_001291421.2:c.2710C>T