Canonical Allele Identifier: PA2825057270
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925575
ClinVar RCV Id: RCV003783669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys499Arg
CA392342701
NM_000138.5:c.1495T>C