ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645459322
Gene: UPB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057411.1:p.Glu172Lys
CA10153257
NM_016327.3:c.514G>A