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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.1:p.[Glu266_Asn271delinsAsnValGlnValGluMet;Asn273_Val284delinsIlePheAlaGluMetAlaAsnAlaLeuIleGlnTrp;Ser286_Tyr295delinsLeuSerSerAlaSerAlaMetLysAlaMet]
CA2695220241
ENST00000674301.1:c.796del