Canonical Allele Identifier: PA658692614
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492830
ClinVar RCV Id: RCV000583145 RCV000816412
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2221Tyr
CA392333555
NM_000138.5:c.6662G>A