Canonical Allele Identifier: PA658661322
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457260
ClinVar RCV Id: RCV000560403 RCV001177890 RCV000995330 RCV002506299 RCV004003795
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln2467Arg
CA058511
NM_000138.5:c.7400A>G