ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406359
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys2590Trp
CA16619940
NM_000138.5:c.7770C>G