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: PA645404726

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264289

ClinVar RCV Id: RCV002311125

ClinVar Variation Id: 2154893

ClinVar RCV Id: RCV003089260

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.His1041Gln	CA049905 NM_000138.5:c.3123C>A CA10587837 NM_000138.5:c.3123C>G