ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827089320
Gene: UBA5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308168.1:p.Lys198Glu
CA10588812
NM_001321239.1:c.592A>G