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
ENSP00000509268.1:p.His145Gln	CA373799036 ENST00000686600.1:c.435T>G CA373799038 ENST00000686600.1:c.435T>A