Canonical Allele Identifier: PA2573162654
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys168Ser
CA392446298
NM_000138.5:c.503G>C
CA392446300
NM_000138.5:c.502T>A