Allele Registry

Canonical Allele Identifier: PA281769

Gene: FBN1 HGNC NCBI

ClinVar Allele:

44707

ClinVar RCV:

RCV000029703

RCV000631929

RCV003330401

ClinVar Variation:

36043

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys685Trp	CA012728 NM_000138.5:c.2055C>G