Canonical Allele Identifier: PA2826043386
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_001161091.1:p.Cys515_Ter516insLysIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA009316
NM_001167619.3:c.1546T>A