Canonical Allele Identifier: PA645405831
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 263898
ClinVar RCV Id: RCV000413845 RCV001260318 RCV002310892 RCV002518701 RCV003888667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2011Tyr
CA10587803
NM_000138.5:c.6032G>A