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Canonical Allele Identifier: Get Identifier
Gene: BEST1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000367282.4:p.[Gln327_Lys340delinsArgThrCysLeuGlyTrpSerArgThrCysThrGlyIleSer;Glu342_Gln344delinsSerHisSer;Tyr347_Arg356delinsThrGlnLeuLeuProProSerSerValGlu]
CA2695214605
ENST00000378043.9:c.979del