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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.[Ala2765Cys;Asn2767_Leu2781delinsGlnTyrPhe;Ala2783_Asn2791del;Tyr2793_Leu2794delinsGln]
CA2695220490
NM_000138.5:c.8292dup