This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Phe1400_Cys1408del;Glu1410_Asn1411del;Asn1413_Gly1418delinsVal;Cys1420Thr;Asn1422_Tyr1427delinsMetSerAlaLeu;Cys1429Thr]
CA353691
ENST00000674301.2:c.4197del