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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Ser1386_Arg1388delinsLeuThrAlaVal;Leu1390_Cys1391delinsAlaArg;Glu1393_Cys1402delinsAspThrGlnValMetAlaSerLeuValGln;Asp1404del;Asp1406_Cys1408delinsMet;Glu1410_Asn1411delinsAla;Asn1413_Cys1415delinsArgThr]
CA1139663888
ENST00000674301.2:c.4155del