Canonical Allele Identifier: PA281848
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36115
ClinVar RCV Id: RCV000029777 RCV000181602 RCV000474840 RCV000766959 RCV002504828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2471Arg
CA017196
NM_000138.5:c.7412C>G