Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2499228923

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1016915

ClinVar RCV Id: RCV001315990 RCV004005082

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys1381Asn	CA392320253 NM_000138.5:c.4143G>T CA392320255 NM_000138.5:c.4143G>C