Canonical Allele Identifier: PA2827112409
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
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Gly345Arg
CA009685
NM_001322005.2:c.1033G>C
CA043581
NM_001322005.2:c.1033G>A