Canonical Allele Identifier: PA2826039215
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
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001161089.1:p.Phe528Leu
CA007310
NM_001167617.3:c.1584C>A
CA031166
NM_001167617.3:c.1582T>C
CA352065310
NM_001167617.3:c.1584C>G