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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011533341.1:p.[Tyr4183_Val4188delinsThrArgGluAsnMetLeu;Tyr4190Thr;Val4192_Tyr4203delinsLeuMetLeuLysValValIleSerMetAspHisThrSer;Pro4205His;Tyr4207_Ile4212delinsHisMetGlnLeuLeu]
CA645591579
XM_011535039.2:c.12547del