Canonical Allele Identifier: PA645510413
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439709
ClinVar RCV Id: RCV000508543 RCV001178179 RCV003403189
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg609Cys
CA045974
NM_000138.5:c.1825C>T