Canonical Allele Identifier: PA304014
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly518Arg
CA012241
NM_000138.5:c.1552G>A
CA392342225
NM_000138.5:c.1552G>C