Allele Registry

Canonical Allele Identifier: PA645406364

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 423498

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2592Phe	CA16619939 NM_000138.5:c.7775G>T