Canonical Allele Identifier: PA2827115131
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185925
ClinVar RCV Id: RCV000165430 RCV000471981 RCV000481332 RCV001193854 RCV001356004 RCV001798589 RCV003462172 RCV003995415
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Glu308Asp
CA013290
NM_001322006.2:c.924G>C
CA366743186
NM_001322006.2:c.924G>T