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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.[Pro231_Val242delinsHisThrAlaGlySerPheLysCysSerCysSer;Gly245_Glu261delinsTrpIleGlyAspGlyIleLysCysThrAspLeuAspGluCysSerAsnGly]
CA2575717301
ENST00000537463.6:c.692_693del