Canonical Allele Identifier: PA658800812
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527199
ClinVar RCV Id: RCV000631995 RCV001190262 RCV002483785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val1931Ile
CA392340272
NM_000138.5:c.5791G>A