Allele Registry

Canonical Allele Identifier: PA645404816

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000482179

RCV000631978

RCV004002241

ClinVar Variation:

418195

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1125Gln	CA050461 NM_000138.5:c.3374G>A