Allele Registry

Canonical Allele Identifier: PA304084

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181470

RCV001057247

RCV001192951

RCV001374768

RCV003996679

ClinVar Variation:

200006

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg976Cys	CA013523 NM_000138.5:c.2926C>T