Canonical Allele Identifier: PA658825874
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys914Ser
CA392330870
NM_000138.5:c.2741G>C
CA392330875
NM_000138.5:c.2740T>A