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: PA1139761523

Gene: SPG11 HGNC NCBI

Linked Data

ClinVar Variation Id: 963641

ClinVar RCV Id: RCV001237694 RCV002348806

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_079413.3:p.Thr1810Ser	CA392222564 NM_025137.4:c.5429C>G CA392222565 NM_025137.4:c.5428A>T