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
ENSP00000506739.1:p.Asp431Glu
CA387549209
ENST00000683210.1:c.1293T>G
CA387549210
ENST00000683210.1:c.1293T>A