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
ENSP00000371735.3:p.Phe1216Leu
CA387534167
ENST00000382298.7:c.3648C>G
CA387534169
ENST00000382298.7:c.3648C>A
CA387534188
ENST00000382298.7:c.3646T>C