Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA2825058330

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572595

ClinVar RCV Id: RCV003314480

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu1327Asp	CA392320630 NM_000138.5:c.3981A>T CA392320631 NM_000138.5:c.3981A>C