ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829967255
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
397533
ClinVar RCV Id:
RCV000449529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066963.2:p.Leu1200Phe
CA16609406
NM_021140.4:c.3598C>T