Allele Registry

Canonical Allele Identifier: PA304256

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000181587

RCV000469404

RCV000584375

RCV003996695

ClinVar Variation:

200101

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ile2350Val	CA016952 NM_000138.5:c.7048A>G