Allele Registry

Canonical Allele Identifier: PA658800939

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631936

RCV000663961

RCV001591408

RCV003485619

ClinVar Variation:

527160

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2511Tyr	CA392325908 NM_000138.5:c.7532G>A