This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507624.1:p.[Pro2060_Ile2062delinsPhePhe;Glu2064del;Glu2066_Glu2068delinsPheLysLys;Arg2070_Pro2072delinsLysGlnAsn;Met2074Glu;Phe2076_Val2088del]
CA954041083
ENST00000683270.1:c.6173_6177dup