Allele Registry

Canonical Allele Identifier: PA109406

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005070

RCV001004021

RCV001174071

RCV001249798

ClinVar Variation:

4803

HGVS (amino-acid)	Matching Registered Transcripts
NP_006406.1:p.Cys133Trp	CA340293 NM_006415.4:c.399T>G