Canonical Allele Identifier: PA2573061510
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331790
ClinVar RCV Id: RCV001804306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro1036Thr
CA392328193
NM_000138.5:c.3106C>A