Canonical Allele Identifier: PA2827134451
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 142421
ClinVar RCV Id: RCV000131526 RCV000218670 RCV000656951 RCV000662644 RCV001082079 RCV001798453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Leu595Met
CA011333
NM_001322013.1:c.1783C>A