ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580528944
Gene: UBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_695012.1:p.Asn39Ile
CA412786571
NM_153280.3:c.116A>T