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: PA916038686

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 820801

ClinVar RCV Id: RCV001014599 RCV001860769 RCV003473574

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341559.1:p.Asp72Asn	CA72788192 NM_001354630.2:c.213_214delinsGA CA352035758 NM_001354630.2:c.214G>A