Allele Registry

Canonical Allele Identifier: PA645406476

Gene: FBN1 HGNC NCBI

ClinVar Allele:

360972

ClinVar RCV:

RCV000414807

ClinVar Variation:

374081

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2672Trp	CA16043490 NM_000138.5:c.8016T>G