ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573162245
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys2429Phe
CA392328587
NM_000138.5:c.7286G>T