Canonical Allele Identifier: PA2826797129
Gene: KDM6A HGNC NCBI
ClinVar RCV:
RCV000449529
ClinVar Variation:
397533
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278345.1:p.Leu1207Phe
CA16609406
NM_001291416.2:c.3619C>T