Canonical Allele Identifier: PA2827125021
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411023
ClinVar RCV Id: RCV000708731 RCV002230129
ClinVar Variation Id: 2624749
ClinVar RCV Id: RCV003386981 RCV003459852
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Gln546His
CA16612213
NM_001322009.2:c.1638G>T
CA366738120
NM_001322009.2:c.1638G>C