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.Met748Leu
CA387539822
ENST00000683270.1:c.2242A>T
CA387539826
ENST00000683270.1:c.2242A>C