Canonical Allele Identifier: PA645510457
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439708
ClinVar RCV Id: RCV000507361 RCV002245992 RCV000806890
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2221Arg
CA269523649
NM_000138.5:c.6661T>C