Canonical Allele Identifier: PA1139675723
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 919776
ClinVar RCV Id: RCV001178141 RCV001875879 RCV004006446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg1850Cys
CA055227
NM_000138.5:c.5548C>T