Canonical Allele Identifier: PA2827104823
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 184092
ClinVar RCV Id: RCV000163216 RCV000197131 RCV000412322 RCV000524485 RCV000679365 RCV000780629 RCV002492646 RCV003389705 RCV003492673
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308933.1:p.Arg180Gln
CA013345
NM_001322004.2:c.539G>A