Canonical Allele Identifier: PA645405847
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372558
ClinVar RCV Id: RCV000413542 RCV003766146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2029Tyr
CA16042943
NM_000138.5:c.6086G>A