Allele Registry

Canonical Allele Identifier: PA304102

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000254660

RCV001048335

RCV002310747

ClinVar Variation:

200015

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1115Gly	CA013984 NM_000138.5:c.3344A>G