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
ENSP00000509096.1:p.Phe40Leu	CA5121677 ENST00000461132.2:c.120C>G CA373795530 ENST00000461132.2:c.120C>A CA373795543 ENST00000461132.2:c.118T>C