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
ENSP00000440294.2:p.[Ala271_Ile273delinsGlyIleLeu;Trp275_Asp276del;Thr278_Ala290del;Leu292del;Thr295_Leu300delinsGlyArgIleHis;Thr302Ter]
CA2695220631
ENST00000537463.6:c.812_824del