ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573096898
Gene: UNC80
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115893.1:p.Arg1186Cys
CA2083138
NM_032504.2:c.3556C>T