Allele Registry

Canonical Allele Identifier: PA210737

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017902

RCV000029732

RCV000181647

RCV000626614

RCV001000178

RCV001201375

RCV001798007

RCV002496395

ClinVar Variation:

16440

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg122Cys	CA014381 NM_000138.5:c.364C>T