Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Canonical Allele Identifier: PA2826037349

Gene: MLH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572275

ClinVar RCV Id: RCV000693617 RCV002440464

ClinVar Variation Id: 1798904

ClinVar RCV Id: RCV002435875

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001161089.1:p.Glu4Asp	CA352036671 NM_001167617.3:c.12G>C CA352036675 NM_001167617.3:c.12G>T