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
ENSP00000440294.2:p.[Val293_Thr295delinsCysThrAsp;Met297delinsAspGluCys;Ala299delinsGluAsn;Leu300_Arg301insAsnLeuCysGlyAsnGlyGlnCysLeuAsnAlaProGlyGlyTyr;Thr302delinsCysGluCys]
CA490014689
ENST00000537463.6:c.875_876insA
CA645584731
ENST00000537463.6:c.876dup