Canonical Allele Identifier: PA658660538
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp883Arg
CA392332149
NM_000138.5:c.2647T>C
CA392332150
NM_000138.5:c.2647T>A