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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.[Gly1542del;Gly1545_Asn1551delinsLeuHisSerThrMet;Gly1554_Ser1558delinsGlnProAlaAlaMet;Ala1560_Ser1565delinsLeuGluLeuValPheProLys;Gly1567_Lys1568delinsProAla;Ala1569_Trp1570insValLeu;Trp1570_Gly1571insValLysPro;Thr1572Val]
CA1139663948
ENST00000559133.6:c.4625_4626delinsATAATCTCCATTC