Allele Registry

Canonical Allele Identifier: PA304312

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000726402

RCV000801911

RCV002408787

ClinVar Variation:

200132

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Phe2817Val	CA017745 NM_000138.5:c.8449T>G