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: PA2826657859

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 245758

ClinVar RCV Id: RCV000236639 RCV002518430

ClinVar Variation Id: 934438

ClinVar RCV Id: RCV001202827

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269553.1:p.Arg305Ser	CA10584129 NM_001282624.2:c.915G>C CA342820750 NM_001282624.2:c.915G>T