Canonical Allele Identifier: PA2827900288
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973410
ClinVar Variation Id: 1788786
ClinVar RCV Id: RCV002443895

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341552.1:p.Cys415_Ter416insTyrIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA72813907
NM_001354623.2:c.1248A>T
CA352069939
NM_001354623.2:c.1248A>C