Allele Registry

Canonical Allele Identifier: PA109426

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005071

RCV003223389

ClinVar Variation:

4804

HGVS (amino-acid)	Matching Registered Transcripts
NP_006406.1:p.Ser331Phe	CA117094 NM_006415.4:c.992C>T