Canonical Allele Identifier: PA915959302
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 684582
ClinVar RCV Id: RCV000984049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys685Arg
CA392338294
NM_000138.5:c.2053T>C