Canonical Allele Identifier: PA304126
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu1325Asp
CA014679
NM_000138.5:c.3975A>C
CA392320646
NM_000138.5:c.3975A>T