ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499250305
Gene: KDM6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001335645.1:p.Pro482Ser
CA8360654
NM_001348716.2:c.1444C>T