Allele Registry

Canonical Allele Identifier: PA891845471

Gene: FBN1 HGNC NCBI

ClinVar Allele:

568873

ClinVar RCV:

RCV000692304

RCV002406569

ClinVar Variation:

571222

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Tyr2588Cys	CA392324665 NM_000138.5:c.7763A>G