Canonical Allele Identifier: PA2573163010
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp854Cys
CA392332845
NM_000138.5:c.2562G>T
CA392332849
NM_000138.5:c.2562G>C