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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.[Glu2841_Glu2846del;Lys2848_Leu2854del;Gly2856Ter]
CA2695220827
NM_000138.5:c.8523delinsCT