Allele Registry

Canonical Allele Identifier: PA183771

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001269653

RCV002313003

RCV003998292

ClinVar Variation:

179119

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly1987Arg	CA016185 NM_000138.5:c.5959G>C