Allele Registry

Canonical Allele Identifier: PA645404477

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000474427

RCV000663564

ClinVar Variation:

406356

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro886Leu	CA16614816 NM_000138.5:c.2657C>T