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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.[Glu235_Val242delinsGlyPheLysCysSerCysSer;Gly244_Gly245insTrpIle;Leu246_Ala252delinsAspGlyIleLysCysThrAsp;Ile254_Ile263delinsAspGluCysSerAsnGlyThrHisMet;Ala266del]
CA658824324
ENST00000537463.6:c.704_705del