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Canonical Allele Identifier: Get Identifier
Gene: TSC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494682.1:p.[Arg717_Lys724del;Ala727_Lys736delinsProProGlnGly;Leu739_Ile746delinsSerSerSerSerGlyGlyThr]
CA262256
ENST00000644097.1:c.2148dup