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: PA2499259995

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1003634

ClinVar RCV Id: RCV001300210

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1268Ser	CA360757987 NM_001999.4:c.3803G>C CA360757990 NM_001999.4:c.3802T>A