Allele Registry

Canonical Allele Identifier: PA109394

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005072

RCV001321436

ClinVar Variation:

4805

HGVS (amino-acid)	Matching Registered Transcripts
NP_006406.1:p.Ala352Val	CA253295 NM_006415.4:c.1055C>T