Allele Registry

Canonical Allele Identifier: PA2828287754

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV001063615

RCV001249818

RCV002355073

ClinVar Variation:

857854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355202.1:p.Gly232Glu	CA5121288 NM_001368273.1:c.695G>A