Canonical Allele Identifier: PA304208
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200073
ClinVar RCV Id: RCV001078729 RCV001263407 RCV001526943 RCV000756138 RCV001178611
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2018Ile
CA016223
NM_000138.5:c.6052G>A