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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453958.2:p.[Gly1418_Cys1420delinsAla;Asn1422_Ala1423delinsProVal;Gly1425_Tyr1427delinsGlnCysThr;Cys1429_Val1436delinsArgIle;Ser1438_Ile1447delinsLeu]
CA2740096593
ENST00000559133.6:c.4252_4253insCATT