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
ENSP00000507173.1:p.Met2172Leu
CA387521648
ENST00000682944.1:c.6514A>C
CA387521649
ENST00000682944.1:c.6514A>T