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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.[Ser1349_Asp1363delinsArg;Asp1365_Cys1367delinsGln;Asn1369_Gln1376delinsArgValAspTrpArgTrp;Ala1378del]
CA2695220639
ENST00000674301.2:c.4046dup