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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.[Tyr1962_Gly1968delinsSer;Thr1970_Val1972delinsTrpGlu;Ile1974_Cys1977del;Leu1979_Lys1983del;Ala1985_Pro1986del;Thr1988_Cys1989delinsTyr;Asn1991_Ser1995del]
CA2695220223
ENST00000559133.6:c.5885_5895del