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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.[Ala290delinsAspPheThrCysThrAspLeuAspGluCys;Ser291_Leu292insGluAsn;Val293delinsAsnLeuCysGlyAsnGly;Thr295Cys;Met297_Thr302delinsAsnAlaProGlyGlyTyrArg]
CA2580089708
ENST00000537463.6:c.868_869insA