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.Lys1033Asn
CA392328228
ENST00000674301.2:c.3099G>T
CA392328232
ENST00000674301.2:c.3099G>C