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
ENSP00000371729.3:p.His4165Gln
CA387507617
ENST00000382292.9:c.12495T>G
CA387507618
ENST00000382292.9:c.12495T>A