Canonical Allele Identifier: PA2573163152
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454772
ClinVar RCV Id: RCV001939578
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1242Arg
CA392324186
NM_000138.5:c.3724T>C