Canonical Allele Identifier: PA2827131708
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127773
ClinVar RCV Id: RCV000115673 RCV000456314 RCV000587414 RCV000662645 RCV000855604 RCV002505034
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Thr392Met
CA010829
NM_001322012.1:c.1175C>T