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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA658661453

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457269

ClinVar RCV Id: RCV000546431 RCV001181857 RCV000765217 RCV001591196 RCV002298645 RCV002282205

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gln2744His	CA392320213 NM_000138.5:c.8232G>T CA392320221 NM_000138.5:c.8232G>C