Canonical Allele Identifier: PA2825057898
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu992Asp
CA392329314
NM_000138.5:c.2976A>T
CA392329319
NM_000138.5:c.2976A>C