Allele Registry

Canonical Allele Identifier: PA645406298

Gene: FBN1 HGNC NCBI

ClinVar Allele:

360973

ClinVar RCV:

RCV000415196

ClinVar Variation:

373976

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr2425Cys	CA16043491 NM_000138.5:c.7274A>G