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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000501333.2:p.[Cys1564_Ser1565delinsLeu;Gly1567_Thr1582delinsPhe;Glu1584_Pro1590del;Glu1593_Gly1594del]
CA2499222979
ENST00000674301.2:c.4690_4691insTGTT