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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.[Met99_Cys102delinsAsnValHisLeu;Ser104_Pro109delinsIleTrpSerAspSer;Cys111_Ser115delinsPheLeuTrpLeuGln;Gln117_Ser128delinsHisThrThrLeuGlnTyrSerLeuTyrGluTrpArg]
CA2695220687
ENST00000537463.6:c.295dup