ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742026012
Gene: UBR1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777576.1:p.Ser1283Leu
CA7518076
NM_174916.3:c.3848C>T