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: PMS2
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
ENSP00000514637.1:p.Lys709Ter
ENST00000699839.1:c.[2124del;2126A>T;2128...
ENST00000699839.1:c.2125A>T