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: PA2826658104

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 2132526

ClinVar RCV Id: RCV003056055

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269553.1:p.Ser426Arg	CA342823116 NM_001282624.2:c.1276A>C CA342823129 NM_001282624.2:c.1278C>A CA342823132 NM_001282624.2:c.1278C>G