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: PA2825107341

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 973410

ClinVar RCV Id: RCV001249997 RCV002447237

ClinVar Variation Id: 1788786

ClinVar RCV Id: RCV002443895

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000240.1:p.Cys756_Ter757insTyrIleTrpLeuPheMetHisCysGlyMetCysSerSerPheSerValPheArgTyrLysValLeuTyrGlnSerValIleTyrLysValTyrGlnHisLysCysTrp	CA72813907 NM_000249.4:c.2271A>T CA352069939 NM_000249.4:c.2271A>C