Allele Registry

Canonical Allele Identifier: PA2828287566

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005072

RCV001321436

ClinVar Variation:

4805

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355201.1:p.Ala230Val	CA253295 NM_001368272.1:c.689C>T