Canonical Allele Identifier: PA1139673450
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918481
ClinVar RCV Id: RCV001176116 RCV002221614 RCV003769872 RCV002483946 RCV004000323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile895Val
CA048492
NM_000138.5:c.2683A>G