Allele Registry

Canonical Allele Identifier: PA645405243

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000428134

RCV001865362

ClinVar Variation:

387780

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1461Phe	CA16606704 NM_000138.5:c.4382G>T