Canonical Allele Identifier: PA645405564
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406341
ClinVar RCV Id: RCV000467273 RCV000585388 RCV001379157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1777Tyr
CA16614417
NM_000138.5:c.5330G>A