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
ENSP00000453958.2:p.[Met1576_Ala1579del;Asn1581_Ile1587delinsLeu;Cys1589_Thr1601del;Ile1603Leu;Glu1605_Asp1606del]
CA2695220586
ENST00000559133.6:c.4726_4728delinsGTACTCCT