Canonical Allele Identifier: PA304142
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200040
ClinVar RCV Id: RCV000181512 RCV001852280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asp1404Asn
CA014849
NM_000138.5:c.4210G>A