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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.[Ser1550_Ser1558delinsThrMetLysLeuGluLeuValPhePro;Ala1560_Gly1567delinsLeuProAlaAlaValLeuTrpVal;Ala1569_Trp1570delinsPro;Thr1572_Met1576delinsValLeuLeuValArg;Pro1578_Ala1579delinsValLeuLeu]
CA915945994
ENST00000674301.2:c.4649del