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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.[Gln233_Val242delinsThrAlaGlySerPheLysCysSerCysSer;Gly245_Pro262delinsTrpIleGlyAspGlyIleLysCysThrAspLeuAspGluCysSerAsnGlyThr]
CA2695220640
ENST00000537463.6:c.696dup