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
ENSP00000385844.1:p.Ser1780Arg
CA387518696
ENST00000402364.1:c.5340C>G
CA387518697
ENST00000402364.1:c.5340C>A
CA387518702
ENST00000402364.1:c.5338A>C