Allele Registry

Canonical Allele Identifier: PA2828287570

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000191132

ClinVar Variation:

209194

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355201.1:p.Glu236Gln	CA276171 NM_001368272.1:c.706G>C