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: PA2741887724

Gene: FBN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3014946

ClinVar RCV Id: RCV003878569

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Asp1410Glu	CA3395024 NM_001999.4:c.4230C>G CA360754209 NM_001999.4:c.4230C>A