Canonical Allele Identifier: PA2827134994
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135069
ClinVar RCV Id: RCV000121857 RCV000129112 RCV000168196 RCV000590269 RCV001084398 RCV001093698 RCV001095167 RCV003945100
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ala127Thr
CA012018
NM_001322014.1:c.379G>A