Allele Registry

Canonical Allele Identifier: PA2499228812

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV001384077

ClinVar Variation:

1071569

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Asp1930His	CA392341000 NM_000138.5:c.5788G>C