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
XP_016869689.1:p.Thr341Ser	CA373788980 XM_017014200.2:c.1022C>G CA373788985 XM_017014200.2:c.1021A>T