Allele Registry

Canonical Allele Identifier: PA1139673668

Gene: FBN1 HGNC NCBI

ClinVar Variation Id: 921753

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Glu1006Lys	CA049574 NM_000138.5:c.3016G>A