Allele Registry

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: SPTLC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000510483.1:p.Glu48Asp	CA373795381 ENST00000690139.1:c.144A>T CA373795382 ENST00000690139.1:c.144A>C