Canonical Allele Identifier: PA2825060305
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2150578
ClinVar RCV Id: RCV003067640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro2697Thr
CA392321529
NM_000138.5:c.8089C>A