Allele Registry

Canonical Allele Identifier: PA645406392

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000459498

RCV000663985

RCV001181127

RCV002506108

ClinVar Variation:

406273

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile2616Met	CA059284 NM_000138.5:c.7848C>G