Canonical Allele Identifier: PA2825059702
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2922623
ClinVar RCV Id: RCV003787789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Glu2294Lys
CA392330930
NM_000138.5:c.6880G>A