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.Met4170Ile
CA387507585
ENST00000382292.9:c.12510G>T
CA387507586
ENST00000382292.9:c.12510G>C
CA387507587
ENST00000382292.9:c.12510G>A