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
ENSP00000501333.2:p.Phe1026Leu
CA392328864
ENST00000674301.2:c.3078C>G
CA392328867
ENST00000674301.2:c.3078C>A
CA392328876
ENST00000674301.2:c.3076T>C