Canonical Allele Identifier: PA658661262
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457253
ClinVar RCV Id: RCV000527072 RCV000576458 RCV000772096 RCV001755802 RCV002497067
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2282Gln
CA057481
NM_000138.5:c.6845G>A