ClinGen Allele Registry
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Canonical Allele Identifier:
PA304258
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly2351Ser
CA016962
NM_000138.5:c.7051G>A