Canonical Allele Identifier: PA2827118530
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237886
ClinVar RCV Id: RCV000227437 RCV000479471 RCV000570329 RCV002288911 RCV003998786
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308936.1:p.Thr379Met
CA043685
NM_001322007.2:c.1136C>T