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
ENSP00000390925.2:p.Leu557Phe
CA387547291
ENST00000423156.2:c.1671G>C
CA387547293
ENST00000423156.2:c.1671G>T