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: PA658825754

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549127

ClinVar RCV Id: RCV000663598

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys102Ser	CA392446959 NM_000138.5:c.305G>C CA392446967 NM_000138.5:c.304T>A