Allele Registry

Canonical Allele Identifier: PA2826622543

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV001063615

RCV001249818

RCV002355073

ClinVar Variation:

857854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268232.1:p.Gly387Glu	CA5121288 NM_001281303.2:c.1160G>A