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: PA2826659965

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 1705143

ClinVar RCV Id: RCV002281773

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269555.1:p.Met200Ile	CA342817007 NM_001282626.2:c.600G>A CA342817008 NM_001282626.2:c.600G>C CA342817009 NM_001282626.2:c.600G>T