ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826692923
Gene: UPP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001274355.1:p.Ile139Phe
CA4255755
NM_001287426.2:c.415A>T