Canonical Allele Identifier: PA2826460760
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1788743
ClinVar RCV Id: RCV002443852

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245202.1:p.Cys515_Ter516insGlnIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA352069932
NM_001258273.2:c.1546T>C