Canonical Allele Identifier: PA2825060068
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2413174
ClinVar RCV Id: RCV003110180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Phe2548Tyr
CA392325153
NM_000138.5:c.7643T>A