Canonical Allele Identifier: PA658800672
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527159
ClinVar RCV Id: RCV000631932
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1367Ser
CA392320355
NM_000138.5:c.4100G>C
CA392320359
NM_000138.5:c.4099T>A