Canonical Allele Identifier: PA2827912675
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788743
ClinVar RCV Id: RCV002443852
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341559.1:p.Cys701_Ter702insGlnIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA352069932
NM_001354630.2:c.2104T>C