Canonical Allele Identifier: PA2499228767
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1163573
ClinVar RCV Id: RCV001508764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2762Thr
CA392319922
NM_000138.5:c.8284G>A