Allele Registry

Canonical Allele Identifier: PA645406020

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000462736

RCV001377060

ClinVar Variation:

406333

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2192Trp	CA16614406 NM_000138.5:c.6576C>G