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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453958.2:p.[Cys1942_Gly1945del;Cys1947_Ala1965delinsLysTrp;Asp1967_Cys1971delinsMetHis]
CA16614638
ENST00000559133.6:c.5823_5824del