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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.[Glu1393_Gly1397del;Gly1399_Phe1400del;Cys1402_Cys1408delinsGlnValMetAla;Glu1410_Asn1413delinsLeuValGlnThr;Cys1415_Cys1420delinsMetSerAla;Asn1422_Pro1424delinsArgThr]
CA2580613819
ENST00000674301.2:c.4179_4182del