Canonical Allele Identifier: PA281850
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36116
ClinVar RCV Id: RCV000029778 RCV000484503 RCV001212859 RCV002313721 RCV004528138
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe2556Val
CA017323
NM_000138.5:c.7666T>G