Allele Registry

Canonical Allele Identifier: PA2828287548

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005071

RCV003223389

ClinVar Variation:

4804

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355201.1:p.Ser209Phe	CA117094 NM_001368272.1:c.626C>T