ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825059146
Gene: FBN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1905Phe
CA392341306
NM_000138.5:c.5714G>T