Canonical Allele Identifier: PA658825749
Gene: FBN1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Trp71Arg
CA392448391
NM_000138.5:c.211T>C
CA392448393
NM_000138.5:c.211T>A