Canonical Allele Identifier: PA2827130570
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
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308941.1:p.Glu100Asp
CA009369
NM_001322012.1:c.300A>T
CA10582513
NM_001322012.1:c.300A>C