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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.[Asn1422_Val1436delinsMetHisGlnGluAspThrAlaValAsnAlaThrTrpAlaSerCys;Ser1438_Asp1440delinsValLeuThr;Ala1443_Ser1451delinsProValLysIleLeuMetSerAlaPro]
CA2580617697
ENST00000674301.2:c.4265del