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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.[Arg1541_Gly1542del;Asn1544_Asp1546delinsLeuGluGlu;Ala1548_Asn1551delinsMet;Gly1554_Ser1558delinsGlnProAlaAlaMet;Ala1560_Ser1565delinsLeuGluLeuValPheProLys;Gly1567_Lys1568delinsProAla;Ala1569_Trp1570insValLeu;Trp1570_Gly1571insValLysPro]
CA2695220596
ENST00000559133.6:c.4616_4620dup