Allele Registry

Canonical Allele Identifier: PA276173

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000191132

ClinVar Variation:

209194

HGVS (amino-acid)	Matching Registered Transcripts
NP_006406.1:p.Glu358Gln	CA276171 NM_006415.4:c.1072G>C