Canonical Allele Identifier: PA2827136420
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1784701
ClinVar RCV Id: RCV002419730

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Met676Ile
CA366738150
NM_001322014.1:c.2028G>A
CA366738151
NM_001322014.1:c.2028G>C
CA366738152
NM_001322014.1:c.2028G>T