Canonical Allele Identifier: PA2499228770
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys123Ser
CA392446598
NM_000138.5:c.368G>C
CA392446600
NM_000138.5:c.367T>A