Canonical Allele Identifier: PA304000
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1677349
ClinVar RCV Id: RCV002223383 RCV004005531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Gln351Arg
CA011904
NM_000138.5:c.1052A>G