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)
Matching Registered Transcripts
ENSP00000514622.1:p.Arg428Gln
CA010042
ENST00000699821.1:c.1283_1284delinsAG
CA010059
ENST00000699821.1:c.1283G>A