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.Phe4552Leu
CA387504772
ENST00000382298.7:c.13656C>G
CA387504773
ENST00000382298.7:c.13656C>A
CA387504778
ENST00000382298.7:c.13654T>C