Canonical Allele Identifier: PA2826458897
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_001245200.1:p.Cys687_Ter688insTyrIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp
CA72813907
NM_001258271.2:c.2064A>T
CA352069939
NM_001258271.2:c.2064A>C