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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.[Ala972_Val984delinsTrpProProProHisGlyArgLeuLeuLeuLeuArgArg;Ala986_Trp988delinsSerLeu;Thr990_Cys996delinsTyr;Met998_Pro1002del]
CA2695220379
ENST00000674301.2:c.2913_2914del