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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.Ser2005Arg
CA392339584
NM_000138.5:c.6015T>A
CA392339586
NM_000138.5:c.6015T>G
CA392339600
NM_000138.5:c.6013A>C