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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.[Val984Ser;Ala986_Trp988delinsGlnPro;Thr990_Met998delinsValLeu;Thr1001_Cys1008delinsAlaArgSerVal;Arg1010_Gly1013del]
CA2740096651
NM_000138.5:c.2949del