Canonical Allele Identifier: PA2827100213
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 219612
ClinVar RCV Id: RCV000206422 RCV000213296 RCV000587309 RCV000765957 RCV001160656 RCV003997572
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Glu383Lys
CA044318
NM_001322003.2:c.1147G>A