Canonical Allele Identifier: PA2827136493
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786398
ClinVar RCV Id: RCV002417775
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Glu710Asp
CA366737927
NM_001322014.1:c.2130G>T
CA366737928
NM_001322014.1:c.2130G>C