Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000371729.3:p.Phe4220Leu	CA387507248 ENST00000382292.9:c.12660T>G CA387507249 ENST00000382292.9:c.12660T>A CA387507254 ENST00000382292.9:c.12658T>C