Canonical Allele Identifier: PA645406077
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384344
ClinVar RCV Id: RCV000422604 RCV001183817 RCV002286733 RCV002525380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2242Cys
CA057276
NM_000138.5:c.6724C>T