Allele Registry

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Canonical Allele Identifier: PA2825058205

Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2927084

ClinVar RCV Id: RCV003781274

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Arg1234Ser	CA392324313 NM_000138.5:c.3702A>T CA392324314 NM_000138.5:c.3702A>C