Canonical Allele Identifier: PA1139673356
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp854Arg
CA392332866
NM_000138.5:c.2560T>C
CA392332867
NM_000138.5:c.2560T>A