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: PA2827898363

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 853362

ClinVar RCV Id: RCV001058153 RCV002402421 RCV003462572 RCV004000100

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341551.1:p.Met246Ile	CA030767 NM_001354622.2:c.738G>A CA352064405 NM_001354622.2:c.738G>C CA352064421 NM_001354622.2:c.738G>T