Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: FBN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000129.3:p.Val2751Leu	CA392320116 NM_000138.5:c.8251G>T CA392320118 NM_000138.5:c.8251G>C