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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.[Gly1434_Val1436delinsAlaSerCys;Ser1438_Asp1440delinsValLeuThr;Ala1443_Asp1446delinsProValLys;Asp1448_Cys1450delinsLeuMet;Leu1452Ala;Asn1454_Cys1456delinsPheArgThrSer;Phe1458_Asn1463delinsSerLeuGluLeuAlaThrThr]
CA658824319
ENST00000316623.9:c.4301del