Canonical Allele Identifier: PA2827130847
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141000
ClinVar RCV Id: RCV000129313 RCV000589892 RCV000629794 RCV002505103 RCV003997493
ClinVar Variation Id: 220433
ClinVar RCV Id: RCV000205844 RCV000215100 RCV000219384 RCV000780614 RCV003491960 RCV003997637
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Gly169Arg
CA009685
NM_001322012.1:c.505G>C
CA043581
NM_001322012.1:c.505G>A