Canonical Allele Identifier: PA2825060392
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1917488
ClinVar RCV Id: RCV002598300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ala2762Asp
CA392319914
NM_000138.5:c.8285C>A