ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: PURA
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000499133.1:p.Ile206del
ENST00000651386.1:c.616_618del
ENST00000651386.1:c.[616_618del;621C=]
ENST00000651386.1:c.[616_618del;621C>T]
