ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580424418
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2003394
ClinVar RCV Id:
RCV002811146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_066963.2:p.Arg46Lys
CA413020362
NM_021140.4:c.137G>A