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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000325527.5:p.[Ser1953Phe;Gln1955_Glu1963delinsPro;Ala1965del;Asp1967_Cys1971del;Asp1973_Arg1982delinsGln]
CA658824294
ENST00000316623.9:c.5857dup