Canonical Allele Identifier: PA658800975
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527194
ClinVar RCV Id: RCV000631990
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys2652Arg
CA392322971
NM_000138.5:c.7954T>C