Canonical Allele Identifier: PA2826462602
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973410
ClinVar RCV Id: RCV001249997 RCV002447237
ClinVar Variation Id: 1788786
ClinVar RCV Id: RCV002443895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245203.1:p.Cys515_Ter516insTyrIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA72813907
NM_001258274.3:c.1548A>T
CA352069939
NM_001258274.3:c.1548A>C