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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.[Arg1530_Leu1536delinsAlaLeuGluIleAlaIleTrpIlePhe;Ile1538_Thr1547delinsLeuGluGluThrMetGluIleGlnProAla;Cys1549_Asn1551delinsMetLysLeu;Ile1553_Gly1554delinsLeu;Gly1556_Ser1558delinsPhePro]
CA1139663949
ENST00000674301.2:c.4588del