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.[Ser1689_Ala1705delinsCys;Asp1707_Val1709delinsCys;Ile1711_Ser1718del]
CA16041634
ENST00000683270.1:c.5064_5065dup