Canonical Allele Identifier: PA2827111804
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41722
ClinVar RCV Id: RCV000034638 RCV000115712 RCV000212860 RCV000987839 RCV001083014 RCV001354089 RCV003952396
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Tyr183Cys
CA013361
NM_001322005.2:c.548A>G