Canonical Allele Identifier: PA304397
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200198
ClinVar RCV Id: RCV000181705 RCV000631971 RCV001844074 RCV002314687 RCV003235103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn2526Ser
CA017256
NM_000138.5:c.7577A>G