ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826798466
Gene: KDM6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284610
ClinVar RCV Id:
RCV000377102
RCV002059156
RCV003947880
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278350.1:p.Pro390Ser
CA10392483
NM_001291421.2:c.1168C>T