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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.[Ile273_Val280delinsAsnThrMetGlySerTyrArg;Ala282_Arg283delinsLeuCys;Asp285_Gln294delinsGluGlyTyrThrGlyAspGlyPheThrCys;Thr295_Leu296insAsp;Met297_Thr302delinsAspGluCysSerGluAsn]
CA16614431
ENST00000537463.6:c.817dup