Canonical Allele Identifier: PA916025485
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41714
ClinVar RCV Id: RCV000034630 RCV000115698 RCV000123089 RCV000212836 RCV000515284 RCV001083711 RCV001159382 RCV003149612 RCV003944883
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ile18Thr
CA012293
NM_001322014.1:c.53T>C