Canonical Allele Identifier: PA281775
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36047
ClinVar RCV Id: RCV000029707
ClinVar Variation Id: 549075
ClinVar RCV Id: RCV000663532
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys790Ser
CA012976
NM_000138.5:c.2369G>C
CA392335398
NM_000138.5:c.2368T>A