Canonical Allele Identifier: PA658800666
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521833
ClinVar RCV Id: RCV000781366 RCV001179399 RCV003147524 RCV002532845 RCV002483751
ClinVar Variation Id: 1371510
ClinVar RCV Id: RCV001879028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gly1353Arg
CA392320463
NM_000138.5:c.4057G>C
CA392320464
NM_000138.5:c.4057G>A