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: PA2827892535

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 186843

ClinVar RCV Id: RCV000166495 RCV000226857 RCV000484742 RCV000662540 RCV000708919 RCV000764487 RCV001800500

ClinVar Variation Id: 2780986

ClinVar RCV Id: RCV003759956

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341548.1:p.Gly132Arg	CA004380 NM_001354619.2:c.394G>A CA352052220 NM_001354619.2:c.394G>C