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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ser2030Arg
CA392338366
NM_000138.5:c.6090T>G
CA392338369
NM_000138.5:c.6090T>A
CA392338382
NM_000138.5:c.6088A>C