Allele Registry

Canonical Allele Identifier: PA2499228847

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001377380

ClinVar Variation:

1066393

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys617del	CA2499223009 NM_000138.5:c.1849_1851del