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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.[Gln1955_Asp1967delinsSerAlaSerAlaMetLysAlaMetArgTrpLeuGlnMet;Arg1969_Cys1971delinsGlyPro;Asp1973Trp;Asn1975_Cys1984delinsSerMetAsnValPhe]
CA658824293
NM_000138.5:c.5863del