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Canonical Allele Identifier: Get Identifier
Gene: FBN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440294.2:p.[Thr270_Asp276delinsGluTyrHisGlyIleLeuPro;Thr278_Ala290del;Leu292del;Thr295_Leu300delinsGlyArgIleHis]
CA10587826
ENST00000537463.6:c.807_813del