Allele Registry

Canonical Allele Identifier: PA2828287718

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005071

RCV003223389

ClinVar Variation:

4804

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355202.1:p.Ser176Phe	CA117094 NM_001368273.1:c.527C>T