Allele Registry

Canonical Allele Identifier: PA658660892

Gene: FBN1 HGNC NCBI

ClinVar Allele:

464918

ClinVar RCV:

RCV000530303

ClinVar Variation:

457206

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys1415Tyr	CA392317993 NM_000138.5:c.4244G>A