Canonical Allele Identifier: PA2573061460
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332760
ClinVar RCV Id: RCV001806334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys1497Trp
CA392353718
NM_000138.5:c.4491C>G