Allele Registry

Canonical Allele Identifier: PA101771

Gene: FBN2 HGNC NCBI

ClinVar RCV:

RCV000177645

RCV000659618

ClinVar Variation:

196780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001990.2:p.Cys1384Tyr	CA244152 NM_001999.4:c.4151G>A