Canonical Allele Identifier: PA2825058176
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2069386
ClinVar RCV Id: RCV002962128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1208Trp
CA392324596
NM_000138.5:c.3624T>G