Canonical Allele Identifier: PA304082
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200005
ClinVar RCV Id: RCV000181469 RCV000208533 RCV001192095 RCV001205432 RCV001797666
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg954His
CA013484
NM_000138.5:c.2861G>A