ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830081884
Gene: UNC80
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115893.1:p.Arg2251His
CA350773421
NM_032504.2:c.6752G>A