Canonical Allele Identifier: PA281819
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV003317046
ClinVar Variation:
36091
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys186Arg
CA015898
NM_000138.5:c.556T>C