Canonical Allele Identifier: PA658691708
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495605
ClinVar RCV Id: RCV000587482 RCV002298701
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1388Pro
CA392320168
NM_000138.5:c.4163G>C