Canonical Allele Identifier: PA2827112996
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127767
ClinVar RCV Id: RCV000115667 RCV000214212 RCV000559426 RCV001420821 RCV003997287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Arg493Gln
CA010408
NM_001322005.2:c.1478G>A