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
ENSP00000390925.1:p.Leu208Phe
CA387546781
ENST00000423156.1:c.624A>C
CA387546784
ENST00000423156.1:c.624A>T