Canonical Allele Identifier: PA2827114083
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9245
ClinVar RCV Id: RCV000009826 RCV000056324 RCV000076807 RCV000115657 RCV000200994 RCV000524432 RCV000722017 RCV001353458 RCV001267878 RCV001797999 RCV001804723 RCV002476951 RCV003335023 RCV003390667 RCV004555831
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Ser46Ile
CA009597
NM_001322006.2:c.137G>T