Canonical Allele Identifier: PA2827135115
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127791
ClinVar RCV Id: RCV000115696 RCV000123087 RCV000235195 RCV001355954 RCV003952550 RCV003997290 RCV000765968 RCV000987848 RCV002465515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Val159Met
CA012132
NM_001322014.1:c.475G>A