Allele Registry

Canonical Allele Identifier: PA658690551

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000590583

ClinVar Variation:

495565

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asn630Tyr	CA392339102 NM_000138.5:c.1888A>T