Allele Registry

Canonical Allele Identifier: PA645406483

Gene: FBN1 HGNC NCBI

ClinVar Allele:

400131

ClinVar RCV:

RCV001378110

RCV001560619

ClinVar Variation:

406263

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Cys2674Arg	CA16614384 NM_000138.5:c.8020T>C