Canonical Allele Identifier: PA2826460758
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_001245202.1:p.Cys515_Ter516insTyrIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA72813907
NM_001258273.2:c.1548A>T
CA352069939
NM_001258273.2:c.1548A>C