Allele Registry

Canonical Allele Identifier: PA304022

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181437

RCV002516835

ClinVar Variation:

199974

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys555Phe	CA012433 NM_000138.5:c.1664G>T