Allele Registry

Canonical Allele Identifier: PA645404046

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000780248

RCV001378778

ClinVar Variation:

406325

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys476Arg	CA16614683 NM_000138.5:c.1426T>C