Canonical Allele Identifier: PA2827110422
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_001308933.1:p.Thr714Ser
CA366734822
NM_001322004.2:c.2141C>G
CA366734824
NM_001322004.2:c.2140A>T