Allele Registry

Canonical Allele Identifier: PA2827473575

Gene: SPTLC3 HGNC NCBI

ClinVar RCV:

RCV000235090

ClinVar Variation:

243088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336874.1:p.Trp150Arg	CA9765701 NM_001349945.2:c.448T>C CA408267297 NM_001349945.2:c.448T>A