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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.[Tyr900_Gly905del;Cys908del;Asp910_Asp912delinsLeuLys;Cys914_Glu915delinsHisAsn;Phe917_Cys921del;Asn923_Thr929delinsIle]
CA2695220407
NM_000138.5:c.2697del
CA2825002275
NM_000138.5:c.2698del