Allele Registry

Canonical Allele Identifier: PA645406084

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 379489

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2258Arg	CA16607087 NM_000138.5:c.6772T>C