Allele Registry

Canonical Allele Identifier: PA645406017

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000494127

RCV000722112

ClinVar Variation:

429425

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2181Arg	CA392335055 NM_000138.5:c.6541T>C