Allele Registry

Canonical Allele Identifier: PA658660588

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000536950

RCV001115324

RCV001115325

RCV001121896

RCV001121897

RCV001121898

RCV001121899

RCV001121900

RCV001311040

ClinVar Variation:

457184

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val984Ile	CA049472 NM_000138.5:c.2950G>A