Allele Registry

Canonical Allele Identifier: PA913191799

Gene: FBN1 HGNC NCBI

ClinVar Allele:

618264

ClinVar RCV:

RCV000776456

ClinVar Variation:

630592

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro970Ser	CA049323 NM_000138.5:c.2908C>T