Canonical Allele Identifier: PA2827137327
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127798
ClinVar RCV Id: RCV000115706 RCV000121861 RCV000144656 RCV000197094 RCV000409948 RCV000588331 RCV000765960 RCV000708992 RCV001798338 RCV003326121
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Asp183Gly
CA013022
NM_001322015.1:c.548A>G