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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453958.2:p.[Arg1170_Asn1183delinsProLeuArgGluProHisArgGluValSerValCysLeuGln;Gly1185_Thr1189delinsTrpLeu;Asp1191_Leu1193del;Cys1195_Ile1198delinsAsnSerArg]
CA2573332582
ENST00000559133.6:c.3506dup