Canonical Allele Identifier: PA2827134115
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 140847
ClinVar RCV Id: RCV000129052 RCV000234750 RCV000214144 RCV003389702 RCV003453059
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Asp508His
CA010800
NM_001322013.1:c.1522G>C