Canonical Allele Identifier: PA2499248799
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_001308943.1:p.Thr860Ser
CA366734822
NM_001322014.1:c.2579C>G
CA366734824
NM_001322014.1:c.2578A>T