ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139713001
Gene: UBA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005490.1:p.Glu483Lys
CA405257904
NM_005499.3:c.1447G>A