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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.[Leu2869delinsAlaSer;Leu2870_His2871insIle;His2871_Ter2872insHisProGluThrLys]
CA017840
NM_000138.5:c.8605_8606del