Allele Registry

Canonical Allele Identifier: PA658660959

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000550970

RCV000663737

RCV000770666

RCV003227781

ClinVar Variation:

457215

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1513Trp	CA392353476 NM_000138.5:c.4539C>G