Allele Registry

Canonical Allele Identifier: PA304072

Gene: FBN1 HGNC NCBI

ClinVar Allele:

197756

ClinVar RCV:

RCV000556229

RCV000663561

RCV000769644

RCV001269745

ClinVar Variation:

200000

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly880Ser	CA013249 NM_000138.5:c.2638G>A