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
ENSP00000508399.1:p.Lys181Asn
CA387551999
ENST00000682775.1:c.543G>T
CA387552000
ENST00000682775.1:c.543G>C