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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Glu1325_Ala1337delinsAspValLysLeuGluHisThrThrValAlaAsnMetLeuTyr;Cys1339_Gly1344delinsProIleGlnGlnGluAla;Phe1346_Ser1351delinsAsnValAlaAlaVal;Trp1354_Ile1355delinsGly]
CA2580089718
ENST00000674301.2:c.3975del