Allele Registry

Canonical Allele Identifier: PA304300

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197588

ClinVar RCV:

RCV000181623

RCV000553667

RCV002314685

ClinVar Variation:

200125

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2669Cys	CA017505 NM_000138.5:c.8005G>T