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: PA2827910453

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1463033

ClinVar RCV Id: RCV001954416 RCV002407196 RCV003464330

ClinVar Variation Id: 1498917

ClinVar RCV Id: RCV001999423

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Phe581Leu	CA031017 NM_001354629.2:c.1743T>G CA352065058 NM_001354629.2:c.1741T>C CA352065074 NM_001354629.2:c.1743T>A