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: PA645416470

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233361

ClinVar RCV Id: RCV000216366 RCV000630045 RCV002267964 RCV002478810

ClinVar Variation Id: 934812

ClinVar RCV Id: RCV001203283 RCV003442761

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Thr81Ser	CA10578204 NM_000249.4:c.242C>G CA352036183 NM_000249.4:c.241A>T