Allele Registry

Canonical Allele Identifier: PA2499228755

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001331011

RCV003770832

ClinVar Variation:

1029664

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg954Leu	CA392330204 NM_000138.5:c.2861G>T