Canonical Allele Identifier: PA658660385
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 457166
ClinVar RCV Id: RCV000553904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys557Phe
CA392341047
NM_000138.5:c.1670G>T