Allele Registry

Canonical Allele Identifier: PA282165

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035134

RCV000587001

RCV001227932

ClinVar Variation:

42300

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys748Arg	CA012895 NM_000138.5:c.2242T>C