Canonical Allele Identifier: PA281668
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16432
ClinVar RCV Id: RCV000017894 RCV003764582
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Asn548Ile
CA012380
NM_000138.5:c.1643A>T