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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.[Leu2753_Glu2759delinsCys;Thr2761_Ile2777del;Glu2779_Leu2781delinsGlyCys]
CA912980574
ENST00000316623.9:c.8254_8255del