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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.[Leu2753_Glu2759delinsCys;Thr2761_Ile2777del;Glu2779_Leu2781delinsGlyCys]
CA912980574
NM_000138.5:c.8254_8255del