Canonical Allele Identifier: PA304060
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199993
ClinVar RCV Id: RCV000181457 RCV001171255 RCV002277440 RCV002307435
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg743Cys
CA012886
NM_000138.5:c.2227C>T