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.Phe1767Leu	CA387525969 ENST00000382292.9:c.5301T>G CA387525970 ENST00000382292.9:c.5301T>A CA387525973 ENST00000382292.9:c.5299T>C