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.[Met1576_Asn1581delinsTyr;Glu1584_Ile1587del;Cys1589_Glu1605del]
CA2580089656
ENST00000674301.2:c.4725_4726insTACACATCCTTGTGAG