Canonical Allele Identifier: PA2827126931
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91305
ClinVar RCV Id: RCV000162805 RCV000483703 RCV000524435 RCV000780617 RCV001354515 RCV003460718 RCV003997187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308939.1:p.Glu317Gln
CA009792
NM_001322010.2:c.949G>C