Canonical Allele Identifier: PA2827134442
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_001308942.1:p.Val592Ile
CA011316
NM_001322013.1:c.1774G>A