Allele Registry

Canonical Allele Identifier: PA126529

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 16446

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Lys1043Arg	CA013794 NM_000138.5:c.3128A>G