Canonical Allele Identifier: PA2827114740
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402517
ClinVar RCV Id: RCV001896968
ClinVar Variation Id: 1934090
ClinVar RCV Id: RCV002631674
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Val215Leu
CA366743927
NM_001322006.2:c.643G>C
CA366743928
NM_001322006.2:c.643G>T