Canonical Allele Identifier: PA2827113577
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185820
ClinVar RCV Id: RCV000165312 RCV000230774 RCV000222502 RCV000662655 RCV000767022 RCV001354621
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308934.1:p.Val648Ile
CA011316
NM_001322005.2:c.1942G>A