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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.[Ala290_Leu292del;Gln294_Thr295delinsHis;Met297_Leu300delinsTyr;Thr302Pro]
CA353691
ENST00000537463.6:c.869del