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.Phe4433Leu
CA387505560
NM_014363.6:c.13299T>G
CA387505561
NM_014363.6:c.13299T>A
CA387505566
NM_014363.6:c.13297T>C