Allele Registry

Canonical Allele Identifier: PA3057599939

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV005282843

ClinVar Variation:

3801187

HGVS (amino-acid)	Matching Registered Transcripts
NP_006406.1:p.Ala352Gly	CA373792434 NM_006415.4:c.1055C>G