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: PA2826825448

Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 481792

ClinVar RCV Id: RCV000567883 RCV002528009

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001280120.1:p.Val253Leu	CA340134691 NM_001293191.2:c.757G>T CA340134692 NM_001293191.2:c.757G>C