Canonical Allele Identifier: PA2827133838
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41708
ClinVar RCV Id: RCV000034623 RCV000076832 RCV000121850 RCV000131477 RCV000615283 RCV001083359 RCV001262164 RCV001353875
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Met431Ile
CA010367
NM_001322013.1:c.1293G>A
CA153227519
NM_001322013.1:c.1293G>C
CA366739515
NM_001322013.1:c.1293G>T