Canonical Allele Identifier: PA2827904524
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_001341555.1:p.Cys398_Ter399insLysIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA009316
NM_001354626.2:c.1195T>A