Canonical Allele Identifier: PA658800663
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527181
ClinVar RCV Id: RCV000631964 RCV002282272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1344Glu
CA392320523
NM_000138.5:c.4031G>A