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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.[Phe1400_Asp1404del;Asp1406_Asn1411delinsHis;Asn1413_Ala1423delinsTyrArg;Gly1425_Arg1428del]
CA2580089708
ENST00000674301.2:c.4196_4197insA