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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.[Asp1363_Ser1375delinsAlaAsnValProMetGluProIleCysAlaAlaSerMet;His1377Thr;Asp1379_Arg1388delinsArgIleProTrpAspLeuThrAlaVal;Leu1390_Cys1391delinsAlaArg;Glu1393_Gly1394delinsAsp]
CA2695220634
ENST00000674301.2:c.4088_4094del