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.Phe1614Leu	CA6911339 ENST00000382292.9:c.4840T>C CA387527335 ENST00000382292.9:c.4842T>G CA387527337 ENST00000382292.9:c.4842T>A