Canonical Allele Identifier: PA2827122204
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127752
ClinVar RCV Id: RCV000115648 RCV000411537 RCV000458229 RCV000565848 RCV003997283
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Glu241Asp
CA009125
NM_001322008.2:c.723G>C
CA366742929
NM_001322008.2:c.723G>T