Canonical Allele Identifier: PA304280
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200114
ClinVar RCV Id: RCV000181604 RCV000536239 RCV003993866 RCV003996698
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Lys2510Arg
CA017236
NM_000138.5:c.7529A>G