Canonical Allele Identifier: PA2827097841
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 182801
ClinVar RCV Id: RCV000160885 RCV000206870 RCV000567432 RCV000587187 RCV003462102 RCV003927529 RCV003998523
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308932.1:p.Val116Met
CA012744
NM_001322003.2:c.346G>A