Canonical Allele Identifier: PA2827134471
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 960950
ClinVar RCV Id: RCV001234564 RCV002447172
ClinVar Variation Id: 1330100
ClinVar RCV Id: RCV001801117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308942.1:p.Ser600Arg
CA366735786
NM_001322013.1:c.1800C>G
CA366735788
NM_001322013.1:c.1800C>A
CA366735797
NM_001322013.1:c.1798A>C