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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.[Ser286Phe;Gln288_Glu296delinsPro;Ala298del;Asp300_Cys304del;Asp306_Arg315delinsGln]
CA658824294
ENST00000674301.1:c.856dup