ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827042104
Gene: UBA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307139.1:p.Ala315Thr
CA2621540
NM_001320210.2:c.943G>A