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: PA2826041441

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187049

ClinVar RCV Id: RCV000166735 RCV000463195 RCV000480782 RCV001731414

ClinVar Variation Id: 229812

ClinVar RCV Id: RCV000217046 RCV000461789 RCV000663259 RCV003997772

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161090.1:p.Arg484Gly	CA008993 NM_001167618.3:c.1449_1450delinsAG CA10578279 NM_001167618.3:c.1450C>G