Allele Registry

Canonical Allele Identifier: PA658691573

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000589858

RCV000772495

RCV004002406

ClinVar Variation:

495597

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1192Lys	CA051106 NM_000138.5:c.3575G>A