Canonical Allele Identifier: PA2827126365
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 237933
ClinVar RCV Id: RCV000232471 RCV000565783 RCV000853300 RCV001174830 RCV001284035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Val171Glu
CA10582517
NM_001322010.2:c.512T>A