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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.[Asn1944_Val1951delinsMetAlaAsnAlaLeuIleGlnTrp;Ser1953_Asp1967delinsLeuSerSerAlaSerAlaMetLysAlaMetArgTrpLeuGlnMet;Arg1969_Asp1973delinsGlyProValTrpIle]
CA2580089691
ENST00000674301.2:c.5831del