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: PA2827890306

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 951886

ClinVar RCV Id: RCV001223887

ClinVar Variation Id: 1786523

ClinVar RCV Id: RCV002430488

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341546.1:p.Lys472Asn	CA352069062 NM_001354617.2:c.1416G>C CA352069065 NM_001354617.2:c.1416G>T