Canonical Allele Identifier: PA3081946184
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp217Arg
CA392445966
NM_000138.5:c.649T>C
CA392445967
NM_000138.5:c.649T>A