ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139695951
Gene: KDM6A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001254086
ClinVar Variation:
976705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278350.1:p.Ala52Asp
CA412781211
NM_001291421.2:c.155C>A