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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.Ser1222Arg
CA392324409
ENST00000559133.6:c.3666C>G
CA392324410
ENST00000559133.6:c.3666C>A
CA392324419
ENST00000559133.6:c.3664A>C