Canonical Allele Identifier: PA2827130353
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1022988
ClinVar RCV Id: RCV001322973 RCV004035091
ClinVar Variation Id: 2110721
ClinVar RCV Id: RCV003042484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Thr538Ser
CA366734822
NM_001322011.2:c.1613C>G
CA366734824
NM_001322011.2:c.1612A>T