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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.[Ser1235_Asn1245delinsTyrAlaProThrSerMetSerValLysIleIle;Asn1247del;Cys1249_Asn1256delinsSerValMetValValSerAlaGln;Pro1258_Gly1259delinsSerLeu;Tyr1261_Leu1264delinsSerThrGlyAlaCys]
CA2740096707
ENST00000674301.2:c.3704del