Canonical Allele Identifier: PA658825758
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys136Ser
CA392446507
NM_000138.5:c.407G>C
CA392446509
NM_000138.5:c.406T>A