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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.[Gly1353_Asp1357delinsIleIleAsnArgLys;Ile1359_Asp1363delinsGlyLeuGluMetAla;Asp1365_His1372delinsSerAlaLeuIleTrpThrAsnValPro;Cys1374_His1377delinsGluProIleCys;Asp1379_Asn1382delinsAlaSerMetGlnThrAlaArg]
CA2175495997
ENST00000674301.2:c.4056_4057insATTATTAACAGAAA