Allele Registry

Canonical Allele Identifier: PA645405717

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000434839

RCV002348180

ClinVar Variation:

381610

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu1894Lys	CA16607803 NM_000138.5:c.5680G>A