Allele Registry

Canonical Allele Identifier: PA658660730

Gene: FBN1 HGNC NCBI

ClinVar Allele:

445358

ClinVar RCV:

RCV000519310

RCV001180375

RCV001858030

RCV002490922

RCV004003641

ClinVar Variation:

452521

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1149Ser	CA050611 NM_000138.5:c.3446A>G