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: PA2828759947

Gene: SP110 HGNC NCBI

Linked Data

ClinVar Variation Id: 65748

ClinVar RCV Id: RCV000055979

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001365371.1:p.Ile33Leu	CA345072 NM_001378442.1:c.96_97delinsAT CA350919014 NM_001378442.1:c.97A>C CA350919015 NM_001378442.1:c.97A>T