Canonical Allele Identifier: PA2827130819
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390803
ClinVar RCV Id: RCV001889633
ClinVar Variation Id: 2586327
ClinVar RCV Id: RCV003341770
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Glu162Asp
CA366742048
NM_001322012.1:c.486G>T
CA366742050
NM_001322012.1:c.486G>C