Allele Registry

Canonical Allele Identifier: PA2573163066

Gene: FBN1 HGNC NCBI

ClinVar Allele:

1505421

ClinVar RCV:

RCV002048544

RCV002261444

RCV002441218

ClinVar Variation:

1515556

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Pro970Leu	CA049335 NM_000138.5:c.2909C>T