Allele Registry

Canonical Allele Identifier: PA2827131177

Gene: PMS2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar Allele:

407184

474584

636235

ClinVar RCV:

RCV000482112

RCV000554303

RCV000574371

RCV000691806

RCV000771397

RCV000809725

RCV002222525

RCV002268190

RCV002481507

RCV004002306

ClinVar Variation:

419597

484254

653879

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Phe251Leu	CA045114 NM_001322012.1:c.753T>G CA16618503 NM_001322012.1:c.753T>A CA366741211 NM_001322012.1:c.751T>C