Allele Registry

Canonical Allele Identifier: PA645405145

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000489946

RCV000663704

RCV003766750

ClinVar Variation:

427006

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1420Phe	CA392317902 NM_000138.5:c.4259G>T