Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA916038201

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 455434

ClinVar RCV Id: RCV000537213 RCV000580682

ClinVar Variation Id: 455436

ClinVar RCV Id: RCV000557809 RCV003159729

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341549.1:p.Cys44Ser	CA352039232 NM_001354620.2:c.130T>A CA352039238 NM_001354620.2:c.131G>C