ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827042083
Gene: UBA5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000254733
ClinVar Variation:
265757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307139.1:p.Lys254Glu
CA10588812
NM_001320210.2:c.760A>G