ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826796244
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002811146
ClinVar Variation:
2003394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278344.1:p.Arg46Lys
CA413020362
NM_001291415.2:c.137G>A