Canonical Allele Identifier: PA281862
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16445
ClinVar RCV Id: RCV000029787 RCV000181628 RCV000243696 RCV000279856 RCV000306003 RCV000394448 RCV000337198 RCV000399653 RCV000586191 RCV001081571
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Arg2726Trp
CA017597
NM_000138.5:c.8176C>T