Allele Registry

Canonical Allele Identifier: PA645404543

Gene: FBN1 HGNC NCBI

ClinVar Allele:

401013

ClinVar RCV:

RCV000460579

RCV000791419

RCV002429487

RCV002526401

ClinVar Variation:

406271

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys908Arg	CA16614815 NM_000138.5:c.2722T>C