Canonical Allele Identifier: PA2827905219
Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 142962
ClinVar RCV Id: RCV000132457 RCV001232077
ClinVar Variation Id: 231139
ClinVar RCV Id: RCV000214440 RCV000216958 RCV000462112 RCV000708930 RCV003330588 RCV003475015
ClinVar Variation Id: 1692278
ClinVar RCV Id: RCV002255874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341556.1:p.Phe268Leu
CA007310
NM_001354627.2:c.804C>A
CA031166
NM_001354627.2:c.802T>C
CA352065310
NM_001354627.2:c.804C>G