Allele Registry

Canonical Allele Identifier: PA658800987

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000631922

RCV001170298

ClinVar Variation:

527153

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg2680His	CA059476 NM_000138.5:c.8039G>A