Allele Registry

Canonical Allele Identifier: PA645404338

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000474029

RCV002250629

ClinVar Variation:

406272

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys769Arg	CA16614664 NM_000138.5:c.2305T>C