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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440294.2:p.[Ile254_Cys264delinsArgMetPheGlnTrpAsnProTyrValGlnPro;Ala266_Met268delinsCysArgLeu;Thr270_Asp276delinsGluTyrHisGlyIleLeuPro;Thr278_Ala279delinsSer;Cys281_Ala282delinsGlnGly;Lys284_Asp285delinsIle]
CA2695220634
ENST00000537463.6:c.760_766del