ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580482447
Gene: FBN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115823.3:p.Arg2550His
CA9150795
NM_032447.5:c.7649G>A