ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573307353
Gene: UBR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001938054
ClinVar Variation:
1408468
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777576.1:p.Ala1632Val
CA7517733
NM_174916.3:c.4895C>T