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
ENSP00000406565.2:p.Met751Leu
CA387539822
ENST00000455470.6:c.2251A>T
CA387539826
ENST00000455470.6:c.2251A>C