Canonical Allele Identifier: PA645406515
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264033
ClinVar RCV Id: RCV001059803 RCV001184762 RCV002503961 RCV003441827 RCV003995708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2730Gln
CA059742
NM_000138.5:c.8189G>A