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: PA2825948166

Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2482965

ClinVar RCV Id: RCV003210213

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001153699.1:p.Ser1767Arg	CA392222845 NM_001160227.2:c.5301C>G CA392222846 NM_001160227.2:c.5301C>A CA392222851 NM_001160227.2:c.5299A>C