Allele Registry

Canonical Allele Identifier: PA126541

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017930

RCV000150705

RCV000663457

RCV000809693

RCV002390114

ClinVar Variation:

16466

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg485Cys	CA012160 NM_000138.5:c.1453C>T