Allele Registry

Canonical Allele Identifier: PA2499228798

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001381556

ClinVar Variation:

1069628

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1461Tyr	CA392354613 NM_000138.5:c.4382G>A