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: PA1139731612

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 863387

ClinVar RCV Id: RCV001070343 RCV004030745

ClinVar Variation Id: 1788767

ClinVar RCV Id: RCV002443876

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Val76Leu	CA352035948 NM_001354630.2:c.226G>C CA352035951 NM_001354630.2:c.226G>T