Canonical Allele Identifier: PA2827120376
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 91303
ClinVar RCV Id: RCV000076811 RCV000221900 RCV000483082 RCV000657046 RCV000684795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308937.1:p.Ala382Val
CA009709
NM_001322008.2:c.1145C>T