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.Phe2963Leu	CA6910701 ENST00000382292.9:c.8889C>A CA387515644 ENST00000382292.9:c.8889C>G CA387515648 ENST00000382292.9:c.8887T>C