Allele Registry

Canonical Allele Identifier: PA304401

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000505745

RCV000690617

ClinVar Variation:

200200

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Leu2626Gln	CA017429 NM_000138.5:c.7877T>A