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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.[Asp1546_Thr1547delinsIleGlnPro;Cys1549_Gly1554delinsAlaMetLysLeuGluLeu;Gly1556_Ser1558delinsPhePro;Ala1560_Gly1567delinsLeuProAlaAlaValLeuTrpVal;Ala1569_Trp1570delinsPro;Thr1572_Glu1575delinsValLeuLeuVal]
CA2695220595
ENST00000559133.6:c.4635del