Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA2827910506

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_001341558.1:p.Phe593Leu	CA007310 NM_001354629.2:c.1779C>A CA031166 NM_001354629.2:c.1777T>C CA352065310 NM_001354629.2:c.1779C>G