Allele Registry

Canonical Allele Identifier: PA658660903

Gene: FBN1 HGNC NCBI

ClinVar Allele:

445355

ClinVar RCV:

RCV000523636

RCV002329234

RCV002527577

RCV003476880

ClinVar Variation:

449440

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr1427Cys	CA392317779 NM_000138.5:c.4280A>G