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: PA104274

Gene: LMNA HGNC NCBI

Linked Data

ClinVar Variation Id: 66916

ClinVar RCV Id: RCV000057431 RCV000694277 RCV002354249

ClinVar Variation Id: 636395

ClinVar RCV Id: RCV000788205 RCV002535769

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_733821.1:p.Phe206Leu	CA018318 NM_170707.4:c.618C>G CA342817045 NM_170707.4:c.616T>C CA342817050 NM_170707.4:c.618C>A