Canonical Allele Identifier: PA658801020
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519710
ClinVar RCV Id: RCV002314312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Val2868Asp
CA392318409
NM_000138.5:c.8603T>A