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: PA2826460440

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820527

ClinVar RCV Id: RCV001014074

ClinVar Variation Id: 2446169

ClinVar RCV Id: RCV003156523

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245202.1:p.Lys429Asn	CA352067773 NM_001258273.2:c.1287G>T CA352067780 NM_001258273.2:c.1287G>C