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
ENSP00000507780.1:p.Asn229Lys
CA155046
ENST00000683367.1:c.687T>A
CA387551344
ENST00000683367.1:c.687T>G