Allele Registry

Canonical Allele Identifier: PA658693160

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589325

RCV002483564

RCV003767333

ClinVar Variation:

495646

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val2501Leu	CA058702 NM_000138.5:c.7501G>C