Canonical Allele Identifier: PA2499228927
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1025849
ClinVar RCV Id: RCV001326223 RCV004005131
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1540Arg
CA392353112
NM_000138.5:c.4619C>G