Canonical Allele Identifier: PA2827114291
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419781
ClinVar RCV Id: RCV000482334 RCV000629799 RCV000772632
ClinVar Variation Id: 2562210
ClinVar RCV Id: RCV003310270
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Gln100His
CA16618536
NM_001322006.2:c.300G>C
CA366744628
NM_001322006.2:c.300G>T