Allele Registry

Canonical Allele Identifier: PA645406128

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 263849

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2295Tyr	CA10587802 NM_000138.5:c.6884G>A