Allele Registry

Canonical Allele Identifier: PA126531

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017910

ClinVar Variation:

16447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn1131Tyr	CA014044 NM_000138.5:c.3391A>T