Allele Registry

Canonical Allele Identifier: PA658800638

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631903

RCV001525838

RCV004003812

ClinVar Variation:

527143

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Ser1188Leu	CA392324950 NM_000138.5:c.3563C>T