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: PA2580467751

Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2079680

ClinVar RCV Id: RCV002998706

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Lys1799Asn	CA392222631 NM_025137.4:c.5397G>C CA392222632 NM_025137.4:c.5397G>T