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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.[Gln1946_Val1951delinsAsnAlaLeuIleGlnTrp;Ser1953_Asp1967delinsLeuSerSerAlaSerAlaMetLysAlaMetArgTrpLeuGlnMet;Arg1969_Cys1971delinsGlyPro;Asp1973Trp;Asn1975delinsSerMet]
CA2573150957
ENST00000674301.2:c.5836del