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: PA2827902894

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785512

ClinVar RCV Id: RCV002422261

ClinVar Variation Id: 2709090

ClinVar RCV Id: RCV003595063 RCV004011355

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341554.1:p.Glu335Asp	CA352068293 NM_001354625.2:c.1005G>C CA352068294 NM_001354625.2:c.1005G>T