Canonical Allele Identifier: PA2827128665
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127755
ClinVar RCV Id: RCV000115652 RCV000629859 RCV000679349 RCV000771586 RCV003997285
ClinVar Variation Id: 237881
ClinVar RCV Id: RCV000227364 RCV000567547 RCV000759913 RCV003463655
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308940.1:p.Glu100Asp
CA009369
NM_001322011.2:c.300A>T
CA10582513
NM_001322011.2:c.300A>C