Canonical Allele Identifier: PA281769
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 36043
ClinVar RCV Id: RCV000029703 RCV000631929 RCV003330401
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Cys685Trp
CA012728
NM_000138.5:c.2055C>G