Canonical Allele Identifier: PA2827897538
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 90108
ClinVar RCV Id: RCV000075594 RCV002444530
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341550.1:p.Cys415_Ter416insLysIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA009316
NM_001354621.2:c.1246T>A