Allele Registry

Canonical Allele Identifier: PA645404351

Gene: FBN1 HGNC NCBI

ClinVar Allele:

409285

ClinVar RCV:

RCV000485515

RCV001317673

RCV003485587

ClinVar Variation:

418193

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr798Cys	CA16619966 NM_000138.5:c.2393A>G