Canonical Allele Identifier: PA2827098346
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127801
ClinVar RCV Id: RCV000115710 RCV000656943 RCV000469956 RCV001093686 RCV003460827 RCV003997295
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Val171Met
CA013247
NM_001322003.2:c.511G>A