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.Asp1768Glu
CA392346541
ENST00000674301.2:c.5304T>A
CA392346544
ENST00000674301.2:c.5304T>G