ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827089046
Gene: UBA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308167.1:p.Val170Met
CA10588809
NM_001321238.2:c.508G>A