Allele Registry

Canonical Allele Identifier: PA2826622385

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005070

RCV001004021

RCV001174071

RCV001249798

ClinVar Variation:

4803

HGVS (amino-acid)	Matching Registered Transcripts
NP_001268232.1:p.Cys133Trp	CA340293 NM_001281303.2:c.399T>G