ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487337
Gene: UMPS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
342931
ClinVar RCV Id:
RCV000331596
RCV003258781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000364.1:p.Ile318Thr
CA2581735
NM_000373.3:c.953T>C