Canonical Allele Identifier: PA658801004
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527186
ClinVar RCV Id: RCV000631973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Leu2778Arg
CA392319559
NM_000138.5:c.8333T>G