Allele Registry

Canonical Allele Identifier: PA658693708

Gene: FBN1 HGNC NCBI

ClinVar Allele:

487629

ClinVar RCV:

RCV001185315

RCV001215047

RCV003488708

RCV004002413

ClinVar Variation:

495659

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ala2714Val	CA059664 NM_000138.5:c.8141C>T