Allele Registry

Canonical Allele Identifier: PA645406682

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000472146

RCV000770650

ClinVar Variation:

406279

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Met2864Lys	CA16614469 NM_000138.5:c.8591T>A