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.[Val1503_Ser1508delinsGlnHisSerArgGlnLeu;Ile1510_Glu1518del;Pro1521_Asn1533del]
CA2695220604
ENST00000674301.2:c.4507_4508del