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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.[Thr968_Leu969insCys;Pro970_Ile971delinsLeuLeu;Gly973_Asp978delinsAlaThrAlaTrpThrPro;Cys980_Cys982delinsAlaAlaPro;Val984del;Ala986_Cys996delinsGlnProGlyValLeuArgAsnAlaArgSerVal;Met998del]
CA2695220382
ENST00000316623.9:c.2905del