Canonical Allele Identifier: PA645405320
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430267
ClinVar RCV Id: RCV000494360
ClinVar Variation Id: 803088
ClinVar RCV Id: RCV000989322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1563Ser
CA392352967
NM_000138.5:c.4688G>C
CA392352971
NM_000138.5:c.4687T>A