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.Met2639Ile
CA387512819
ENST00000402364.1:c.7917G>T
CA387512820
ENST00000402364.1:c.7917G>C
CA387512821
ENST00000402364.1:c.7917G>A