Canonical Allele Identifier: PA891845364
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 565385
ClinVar RCV Id: RCV000684935 RCV003226371
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1391Tyr
CA392320130
NM_000138.5:c.4172G>A