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: PA916038563

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 576391

ClinVar RCV Id: RCV000698872

ClinVar Variation Id: 644911

ClinVar RCV Id: RCV000798905 RCV001525054

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Val15Leu	CA352060661 NM_001354630.2:c.43G>C CA352060666 NM_001354630.2:c.43G>T