Canonical Allele Identifier: PA282161
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 42295
ClinVar RCV Id: RCV000035129 RCV000493952 RCV000697256 RCV003114211 RCV002313727 RCV002482953
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg62Cys
CA012607
NM_000138.5:c.184C>T