Canonical Allele Identifier: PA2826462601
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90108
ClinVar RCV Id: RCV000075594 RCV002444530
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245203.1:p.Cys515_Ter516insLysIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA009316
NM_001258274.3:c.1546T>A