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
NP_000129.3:p.[Asn2183_Gly2187delinsArg;Glu2189_Leu2216del]
CA2695220224
NM_000138.5:c.6548_6558del