ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139668623
Gene: UMPS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000364.1:p.Ile439Thr
CA2581874
NM_000373.3:c.1316T>C