Allele Registry

Canonical Allele Identifier: PA658826013

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000663820

ClinVar Variation:

549306

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1930Tyr	CA392340998 NM_000138.5:c.5788G>T