Canonical Allele Identifier: PA891845269
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys513Ser
CA392342362
NM_000138.5:c.1538G>C
CA392342387
NM_000138.5:c.1537T>A