Allele Registry

Canonical Allele Identifier: PA2826622541

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005069

RCV000789583

RCV001249812

RCV001310659

RCV002371761

ClinVar Variation:

4802

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268232.1:p.Gly387Ala	CA340290 NM_001281303.2:c.1160G>C