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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.[Ala279_Val280delinsCysLeu;Ala282_Asp285delinsLysGluGlyTyr;Gln287_Met297delinsGlyAspGlyPheThrCysThrAspLeuAspGluCys;Ala299delinsGluAsn;Arg301_Thr302delinsAsnLeuCysGlyAsnGly]
CA2580089709
ENST00000537463.6:c.835_836del