Canonical Allele Identifier: PA645404284
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 264197
ClinVar RCV Id: RCV000755195 RCV001264433 RCV001184007 RCV000631931 RCV003995716 RCV001753735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Pro698Leu
CA046724
NM_000138.5:c.2093C>T