Canonical Allele Identifier: PA658826103
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2483Ser
CA392327512
NM_000138.5:c.7448G>C
CA392327516
NM_000138.5:c.7447T>A