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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.Ser1349Arg
CA392320482
NM_000138.5:c.4047C>G
CA392320483
NM_000138.5:c.4047C>A
CA392320489
NM_000138.5:c.4045A>C