Allele Registry

Canonical Allele Identifier: PA658691097

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589223

RCV000632026

RCV000756140

RCV001249314

RCV002438522

RCV004530637

ClinVar Variation:

495582

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg954Cys	CA392330212 NM_000138.5:c.2860C>T