Allele Registry

Canonical Allele Identifier: PA282296

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000035289

RCV000631997

RCV000844629

ClinVar Variation:

42443

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr2793Cys	CA017709 NM_000138.5:c.8378A>G