Allele Registry

Canonical Allele Identifier: PA126521

Gene: FBN1 HGNC NCBI

ClinVar RCV:

RCV000017883

ClinVar Variation:

16421

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1137Pro	CA014076 NM_000138.5:c.3410G>C