Canonical Allele Identifier: PA2573163194
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1413441
ClinVar RCV Id: RCV001945019
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1348Phe
CA392320492
NM_000138.5:c.4043G>T