Allele Registry

Canonical Allele Identifier: PA2573061455

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001806303

ClinVar Variation:

1332729

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1212Tyr	CA392324546 NM_000138.5:c.3635G>A