Canonical Allele Identifier: PA2827133519
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480353
ClinVar RCV Id: RCV000569527 RCV000629904 RCV001755926 RCV004000894
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Ala348Val
CA044643
NM_001322013.1:c.1043C>T