Allele Registry

Canonical Allele Identifier: PA2828287735

Gene: SPTLC1 HGNC NCBI

ClinVar RCV:

RCV000005072

RCV001321436

ClinVar Variation:

4805

HGVS (amino-acid)	Matching Registered Transcripts
NP_001355202.1:p.Ala197Val	CA253295 NM_001368273.1:c.590C>T