Canonical Allele Identifier: PA658690297
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495557
ClinVar RCV Id: RCV000586374
ClinVar Variation Id: 653004
ClinVar RCV Id: RCV000808687
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys504Ser
CA392342609
NM_000138.5:c.1511G>C
CA392342618
NM_000138.5:c.1510T>A