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.[Tyr2853del;Ser2855_Ile2866delinsPro;Val2868_His2871delinsTrp]
CA2695220823
NM_000138.5:c.8557dup