Allele Registry

Canonical Allele Identifier: PA281807

Gene: FBN1 HGNC NCBI

ClinVar Allele:

44743

ClinVar RCV:

RCV000029741

ClinVar Variation:

36079

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1562Ser	CA015315 NM_000138.5:c.4684T>A CA392352976 NM_000138.5:c.4685G>C