Canonical Allele Identifier: PA282243
Gene: FBN1 HGNC NCBI
ClinVar RCV:
RCV000035222
ClinVar Variation:
42380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys177Arg
CA015756
NM_000138.5:c.529T>C