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
ENSP00000371729.3:p.Leu2188Phe
CA387521399
ENST00000382292.9:c.6564A>T
CA387521402
ENST00000382292.9:c.6564A>C