Canonical Allele Identifier: PA658825866
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys853Ser
CA392332879
NM_000138.5:c.2558G>C
CA392332883
NM_000138.5:c.2557T>A