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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440294.2:p.[Thr223_Ile232delinsGlnLeuTrpGlnThrCysCysMetTyr;Gln234_Ala236delinsTyr;Asn238_Gly245delinsArgLys;Glu247Gln;Ala249_Ala252del]
CA2695220643
ENST00000537463.6:c.665_666dup