Canonical Allele Identifier: PA304164
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200051
ClinVar RCV Id: RCV000181527 RCV002478609 RCV003996690
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Thr1529Asn
CA015220
NM_000138.5:c.4586C>A