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: PA2573268974

Gene: SUFU HGNC NCBI

Linked Data

ClinVar Variation Id: 1380808

ClinVar RCV Id: RCV001917319 RCV002425170

ClinVar Variation Id: 2009618

ClinVar RCV Id: RCV002842542

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_057253.2:p.Ser7Arg	CA377886110 NM_016169.4:c.19A>C CA377886118 NM_016169.4:c.21C>A CA377886119 NM_016169.4:c.21C>G