ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645385209
Gene: UBA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938143.1:p.Lys254Glu
CA10588812
NM_198329.4:c.760A>G