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: PA658825791

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 549004

ClinVar RCV Id: RCV000663442 RCV001387166

ClinVar Variation Id: 647600

ClinVar RCV Id: RCV000802144 RCV004528301

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Trp366Cys	CA392347350 NM_000138.5:c.1098G>T CA392347353 NM_000138.5:c.1098G>C