Canonical Allele Identifier: PA3081919891
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1032Ser
CA392328257
NM_000138.5:c.3095G>C
CA392328261
NM_000138.5:c.3094T>A