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
ENSP00000371735.3:p.Phe4176Leu
CA387507540
ENST00000382298.7:c.12528T>G
CA387507541
ENST00000382298.7:c.12528T>A
CA387507546
ENST00000382298.7:c.12526T>C