Canonical Allele Identifier: PA2827114314
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 127789
ClinVar RCV Id: RCV000115693 RCV000465201 RCV000586637 RCV001174801 RCV003467056
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Arg107Trp
CA011828
NM_001322006.2:c.319C>T