ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828720376
Gene: UXS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364434.1:p.Arg196His
CA1815799
NM_001377505.1:c.587G>A