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: PA2827909631

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 219943

ClinVar RCV Id: RCV000206536 RCV000411042 RCV001009894 RCV001174565 RCV003997595

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341558.1:p.Ser341Arg	CA027194 NM_001354629.2:c.1023T>G CA352052229 NM_001354629.2:c.1021A>C CA352052241 NM_001354629.2:c.1023T>A