Canonical Allele Identifier: PA2827900290
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_001341552.1:p.Cys415_Ter416insLysIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA009316
NM_001354623.2:c.1246T>A