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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.[Ala1337_Val1338insTyr;Cys1339_Gly1344delinsProIleGlnGlnGluAla;Phe1346_Ser1351delinsAsnValAlaAlaVal;Trp1354_Ile1355del;Asp1357_Asp1363delinsLeuGluMetAlaLeuSerAla;Asp1365_Cys1367delinsIleTrpThrAsn]
CA916082396
ENST00000674301.2:c.4011del