ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139708910
Gene: UPP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003355.1:p.Ile139Phe
CA4255755
NM_003364.4:c.415A>T