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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.[Asp1379_Arg1388delinsArgIleProTrpAspLeuThrAlaVal;Leu1390_Cys1391delinsAlaArg;Glu1393_Cys1402delinsAspThrGlnValMetAlaSerLeuValGln;Asp1404del;Asp1406_Glu1410delinsMetSerAlaLeuArg]
CA10587826
ENST00000674301.2:c.4135_4141del