Canonical Allele Identifier: PA2827124196
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509142
ClinVar RCV Id: RCV002017686

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Met566Ile
CA366738180
NM_001322008.2:c.1698G>T
CA366738181
NM_001322008.2:c.1698G>C
CA366738182
NM_001322008.2:c.1698G>A