Canonical Allele Identifier: PA2827097281
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127793
ClinVar RCV Id: RCV000115699 RCV000123090 RCV000148736 RCV000212845 RCV000757678 RCV001079691 RCV000987846 RCV001798337 RCV003407497
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Gly72Glu
CA012442
NM_001322003.2:c.215G>A