Allele Registry

Canonical Allele Identifier: PA913191875

Gene: FBN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Gly2395Arg	CA392329171 NM_000138.5:c.7183G>C CA392329174 NM_000138.5:c.7183G>A