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.[Val224_Tyr229delinsGlyLysHisAla;Pro231_Ala236delinsCysThrAsnThrAlaGly;Asn238_Val242delinsPheLysCysSerCysSer;Gly245_Ile254delinsTrpIleGlyAspGlyIleLysCysThrAsp]
CA2740096598
ENST00000537463.6:c.671_672del