Canonical Allele Identifier: PA645403947
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284953
ClinVar RCV Id: RCV000333932 RCV000687611 RCV002503992
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg327Thr
CA060463
NM_000138.5:c.980G>C