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
NP_055178.3:p.Phe2012Leu
CA246658505
NM_014363.6:c.6034T>C
CA387524040
NM_014363.6:c.6036T>G
CA387524041
NM_014363.6:c.6036T>A