This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SPTLC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000494770.1:p.Val8Leu
CA5121582
ENST00000643599.1:c.22G>T
CA5121583
ENST00000643599.1:c.22G>C