ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299400
Gene: UBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1166449
ClinVar RCV Id:
RCV001514718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_695012.1:p.Glu32Lys
CA10395591
NM_153280.3:c.94G>A