ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580482466
Gene: FBN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115823.3:p.Arg2738Cys
CA9150599
NM_032447.5:c.8212C>T