Allele Registry

Canonical Allele Identifier: PA1139674882

Gene: FBN1 HGNC NCBI

ClinVar Allele:

912826

ClinVar RCV:

RCV001176415

ClinVar Variation:

918685

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1530Ser	CA392353179 NM_000138.5:c.4588C>A