Allele Registry

Canonical Allele Identifier: PA185974

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035160

RCV000161120

RCV000766939

RCV000771254

RCV001083288

RCV004534730

ClinVar Variation:

42325

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Thr1020Ala	CA013721 NM_000138.5:c.3058A>G