ClinGen Allele Registry
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Canonical Allele Identifier:
PA658800887
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys2204Arg
CA392334606
NM_000138.5:c.6610T>C