This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.[Ala2754_Asn2767delinsGlnValGlyMetLeuArgArgGlnProSerLeuLeuSer;Ser2769_Val2771delinsPheProThr;Asn2773_Val2775delinsValThr;Ile2777_Leu2778delinsPhe;Leu2780_Ala2783delinsSer]
CA915946621
ENST00000316623.9:c.8259del
CA2740096561
ENST00000316623.9:c.8260del