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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.[Gly244_Gly245del;Glu247_Ala249del;Ser251_Trp255del;Asn257_Met260del;Pro262_Arg272delinsArgValAspTrpArgTrpHis]
CA2175495997
ENST00000537463.6:c.728_729insATTATTAACAGAAA