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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.[Tyr4030_Val4035delinsThrArgGluAsnMetLeu;Tyr4037Thr;Val4039_Tyr4050delinsLeuMetLeuLysValValIleSerMetAspHisThrSer;Pro4052His;Tyr4054_Ile4059delinsHisMetGlnLeuLeu]
CA645591579
NM_001278055.2:c.12088del