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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.Phe1346Leu
CA392320506
NM_000138.5:c.4038C>G
CA392320507
NM_000138.5:c.4038C>A
CA392320512
NM_000138.5:c.4036T>C