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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.[Arg283_Asp285delinsSerThrCys;Gln287_Ala290delinsAspLeuAspGluCys;Ser291_Leu292insGluAsn;Val293delinsAsnLeuCysGlyAsnGly;Thr295Cys;Met297_Leu300delinsAsnAlaProGlyGlyTyr;Thr302Cys]
CA891844498
ENST00000537463.6:c.849_871del