Canonical Allele Identifier: PA645404708
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432164
ClinVar RCV Id: RCV000497322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1032Arg
CA392328259
NM_000138.5:c.3094T>C