Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA192959

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185790

ClinVar RCV Id: RCV000165278 RCV000459216 RCV000483373 RCV001193240 RCV002291579 RCV003995409

ClinVar Variation Id: 237346

ClinVar RCV Id: RCV000234545 RCV000574682

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Phe3Leu	CA013506 NM_000249.4:c.9C>G CA10582150 NM_000249.4:c.7T>C CA352060292 NM_000249.4:c.9C>A