Canonical Allele Identifier: PA658825890
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1053Ser
CA392328043
NM_000138.5:c.3158G>C
CA392328050
NM_000138.5:c.3157T>A